Chemical Formula - Fadh2 - Excel by eox19270

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									                               Condensed by (-) charged DNA looped around (+) charged histones (nucleosome bead).H1 ties t
Describe the structure of Chromatin.                          Biochem
                               H2A, which (-) charged DNA loops (nucleosome core).
Name the charged histones aroundH2B, H3, H4 histones Biochem
                               H1 ties the nucleosome together in a
What role does histone H1 play in chromatin structure? Biochemstring (30nm fiber)
                               In mitosis, DNA condenses to form mitotic chromosomes
What changes occur in DNA structure during mitosis?           Biochem
Describe Heterochromatin                                      inactive
                               Condensed, transcriptionally Biochem
Describe Euchromatin                                          Biochem
                               Less condensed (vs. Heterochromatin), transcriptionally active
                               Purines (A, G) and Pyrimidines (C, T, U)
What is the broad classification of nucleotides? (2)          Biochem
                                1) Purines (A,G) have 2 rings. 2) Pyrimidines (C,T,U) have 1 ring 3) Guanine has a ketone. 4) Th
Describe key structural differences between nucleotides. Biochem
                               Uracil found in RNA Thymine found in DNA
What is the difference between thymine and uracil?            Biochem
                               Purines and pyrimidines        (A-T, G-C)
How do purines and pyrimidines interact, molecularly? pair Biochem via H-bonds
                               G-C purine-pyrimidine pair.Which H-bonds G-C
                                                              Biochem
Describe the number of bonds per bond (3 H-bonds)A-T bond (2 is stronger? bond is stronger
                               1) Genetic Code?               Biochem
What are the four features of theUnambiguous 2) Degenerate 3) Commaless, non-overlapping 4)Universal
                                 genetic code is unambiguous' mean?
                                                              Biochem
What does the statement, 'theEach codon specifies only one amino acid
                                 genetic code codon may code for the
                                                              mean?
What does the statement, 'theMore than oneis degenerate' Biochem same amino acid
                                 genetic code is commaless'Biochem
                                                                The exception are some viruses
What does the statement, 'theThe code is non-overlapping. mean?What is the exception to this rule?
                                 genetic code is universal' mean? What are the exceptions (4)?
                                                               lifeforms.
What does the statement, 'theThe same code is used in allBiochem The exceptions are 1. mitochondria, 2. archaeobacteria, 3
                               1) that 2) occur in DNA? Biochem
What are four types of mutationsSilentcan Missense 3) Nonsense 4) Frame shift
                               Mutation causes a silent mutation?
                                                              aa encoded. Often the base change is in the 3rd position of the cod
What is a silent mutation?What usuallyresults in the same Biochem
What is a missense mutation?                                    aa encoded.
                               Mutation results in a differentBiochem
                               Mutation results
What is a conservative missense mutation? in a differentBiochem aa encoded, but that new aa is similar in chemical structure to the o
                               A                               an early
What is a nonsense mutation? change in DNA resulting inBiochem stop codon.
                               A change in DNA resulting inBiochem
                                                                 the encoded all nucleotides downstream. Usually results in a trunc
What is a frameshift mutation?What is usually the effect on misreading ofprotein?
Define transition.                                             or pyrimidine for pyrimidine.
                               Substituting purine for purineBiochem
Define transversion.                                          Biochem
                               Substituting purine for pyrimidine or vice versa.
Describe DNA replication.                                     Biochem
                               Origin of replication: continuous DNA synthesis on leading strand and discontinuous (Okazaki fra
                               Eukaryotic genome has multiple and plasmid origin of Bacteria, viruses and plasmids have only o
                                                              Biochem
Describe the difference between Eukaryotic Vs. Bacterial, viral origins of replication. replications
What is an Okazaki fragment?                                  Biochem
                               The discontinuous DNA synthesized on the lagging strand during DNA replication
                               Primase Replication?           Biochem
What is the function of primase in DNAmakes an RNA primer on which DNA polymerase can initiate replication.
                               5'®3' exonuclease activity of Biochem
                                                              DNA polymerase I degrades RNA primer; 3'®5' exonuclease activity
What is the function of DNA polymerase during DNA Replication? (2)
                               DNA ligase DNA synthesized     Biochem
What is the function of DNA ligase during seals Replication? DNA into a continuous strand
                               DNA topoisomerases create Biochem the
                                                              a nick in
What is the function of DNA topoisomerase during DNA Replication? helix to relieve supercoils
                               Excision                       Biochem
Describe single-strand, excision repair.repair-specific glycosylase recognizes and removes damaged base. Endonuclease mak
                               Recognizes glycosylase in ss-DNA base.
                                                              Biochem
What is the role of excision repair-specific and removes damaged repair
                               Endonuclease makes             Biochem
What is the role of endonuclease in ss-DNA repair? a break several bases to the 5' side.
                               Exonuclease removes            Biochem
What is the role of exonuclease in ss-DNA repair? short stretch of nucleotides.
                               1) specific glycosylase. 2) endonuclease. 3) exonuclease. 4) Dan polymerase. 5) DNA ligase.
Name the enzymes involved in ss-DNA repair. (5)               Biochem
                               If in DNA repair?
When is recombination involvedboth strands are damaged,Biochem  repair may proceed via recombination with undamaged homologous
                               5' > 3'. Remember that the 5' of the incoming nucleotide bears the triphosphate (energy source f
What direction is DNA synthesized in?                         Biochem
                               5' > 3'. Remember that the 5' of the incoming nucleotide bears the triphosphate (energy source f
What direction is RNA synthesized in?                         Biochem
                               Protein synthesis also proceed in the 5' to 3' (5' > 3')
What direction is protein synthesized in?                     Biochem
                               Amino acids are linked N to C
What atoms link aa in a protein chain?                        Biochem
Name 3 types of RNA            1) mRNA 2) rRNA 3) tRNA Biochem
                               mRNA
Which is the largest type of RNA? (massive)                   Biochem
                               rRNA RNA?
Which is the most abundant type of (rampant)                  Biochem
                               tRNA
Which is the smallest type of RNA? (tiny)                     Biochem
                               RNA the synthesis RNA polymerase II
                                                              Biochem
Name the enzymes responsible for polymerase I of eukaryotic RNA. RNA polymerase III
                               RNA polymerase I makes rRNA
What is the function of RNA polymerase I?                     Biochem
                               RNA polymerase II makes mRNA
What is the function of RNA polymerase II?                    Biochem
                               RNA polymerase III makes tRNA
What is the function of RNA polymerase III?                   Biochem
                               No.
Does RNA polymerase have a proof reading function?            Biochem
                               Yes.
Can RNA polymerase initiate chains?                           Biochem
                                open DNA?                     Biochem
How does RNA polymerase II RNA polymerase II opens DNA at promoter site (A-T rich upstream sequence- TATA and CAAT)
                               alpha-amanitin inhibits RNA polymerase II
What inhibits RNA polymerase II?                               Biochem
                               RNA polymerase
Name the enzyme responsible for the synthesis of RNA in Biochemprokaryotes.
                               Eukaryotes have 3 different Biochem of RNA.
                                                               synthesis
Describe the main difference in eukaryotic and prokaryoticRNA polymerases ('I, II, III synthesize RMT') and prokaryotes have 1
                               AUG,
What is the mRNA initiation codon? or rarely GUG               Biochem
                               AUG codes for methionin, which may be removed before translation is completed. In prokaryotes
What does the AUG mRNA sequence code for?                      Biochem
                               UGA (U                          Biochem
What is the mRNA stop codons? (3) Go Away) UAA (U Are Away) UAG (U Are Gone)
What is a promoter?                                            and multiple other transcription factors bind to DNA upstream from g
                               Site where RNA polymerase Biochem
                                 result of mutation commonly results in dramatic
                                                               Biochem
What would most likely be thePromoter a mutation of the promoter sequence? decrease in amount of gene transcribed.
What is an enhancer?                                           Biochem
                               Stretch of Dan that alters gene expression by binding transcription facts. May be located close to
What are exons?                                                Biochem
                               Exons contain the actual genetic information coding for a protein
What are introns?                                              Biochem
                               Introns are intervening noncoding segments of DNA
                               Introns are removed from primary mRNA mRNA transcripts. A lariat-shaped intermediate is for
                                                               Biochem
Describe the method by which intronsare precisely spliced out of primary transcript.
                                 function?                     Biochem
What is a snRNP? What is itssnRNP = small nuclear ribonucleoprotein. snRNPs facilitate splicing by binding to primary mRNA
                               Only processed RNA is transported transcript leaves eukaryotes.
                                                               Biochem
In eukaryotes, what must occur before an newly synthesized RNA out the nucleus ofthe nucleus?
                               1) Capping on in eukaryotes? G) Biochem
How is the original RNA transcript processed5' end (7-methyl (3) 2)Polyadenylation on 3' end ( =200 As) 3) Splicing out of intron
                               occur in eukaryotes?
Where does RNA processing RNA processing occurs in the nucleus.Biochem
What is hnRNA?                                                 Biochem
                               hnRNA = heterogeneous nuclear RNA The initial RNA transcript is called hnRNA
                               hnRNA = and mRNA?               Biochem
What is the difference between hnRNA the initial RNA transcript mRNA = capped and tailed transcript
Describe tRNA structure.                                        form, anticodon end is opposite 3' aminoacyl end. All tRNAs both eu
                               75-90 nucleotides, cloverleafBiochem
                               All tRNAs, both eukaryotic and prokaryotic, have CCA at 3' end.
What codon sequence is found at the 3' end of all tRNAs? Biochem
                               The bound?                      bound to
At which end of the tRNA is the aaamino acid is covalently Biochem the 3' end of the tRNA.
                               Aminoacyl-tRNA synthetase.Biochem
                                                               This enzyme (one per aa, uses ATP) scrutinizes aa before and after
What enzyme is responsible for 'charging' tRNA? How does it work?
                               The aa-tRNA bond bond? Biochem
What supplies the energy for formation of peptidehas energy for formation of peptide bond.
                               If incorrect, the               Biochem
What prevents an incorrect aa-tRNA pairing? aa-tRNA bond is hydrolyzed by aminoacyl-tRNA synthetase.
                               A mischarged tRNA (bound to wrong aa) reads usual codon but inserts wrong amino acid.
What is the result of 'mischarged' tRNA?                       Biochem
                               Aminoacyl-tRNA synthetase Biochem
                                                               and binding of charged tRNA
What is responsible for the accuracy of amino acid selection during peptide synthesis? to the codon are responsible for accura
Define tRNA wobble.                                            Biochem
                               Accurate base pairing is required only in the first 2 nucleotide positions of an mRNA codon, so co
                               Codons has room for 3rd 'wobble' position may code for the same tRNA/amino acid
                                                               Biochem
Which nucleotide position in the codondiffering in the 'wobble'?
                               P-site: What does the A in A-site stand for?
                                                               Biochem
What does the P in P-site stand for? peptidyl; A-site: aminoacyl;
                               ATP is used in tRNA charging, whereas GTP is used
                                                               Biochem
When is ATP used in protein synthesis?When is GTP used in protein synthesis? in binding of tRNA ribosome and for translo
                               Autosomal dominant              Biochem
Defects in structural genes often follow what pattern of inheritance?
                               male and female
Autosomal dominant defects will effect what members of aBiochem family
                               often present clinically after puberty
What period of life do autosomal dominant defects presentBiochemin?
                               Family Autosomal dominant Biochem
What is crucail to the diagnosis of an history                 disease?
                                                        25% Biochem
what percent of offspring from two autosomal recessive carrier parents will be effected?
                               present autosomal               Biochem
When do patients usually present within childhoodrecessive disorders?
                               usually only one generation Biochem
Autosomal recessive disorders usually effect how many generations in a family?
                               enzyme deficiencies             defect/deficiencie?
Autosomal recessive disorders often result in what kind ofBiochem
                               AR disorders are often more Biochem
                                                               severe
What type of genetic error is usually more severe autosomal recessive or dominant?
                                is characteristic of            of genetic
no male to male transmission X-linked recessive what typeBiochem disorders?
                                                        50% x-linked
what percent of sons of a heterazygous mother carrying anBiochem disease will be effected?
                               mitochondrial
What type of inheritance is transmitted only through mothers?  Biochem
                               males
X-linked recessive disease is aften more severe in             Biochem
                               all offspring can be effected Biochem
what offspring of females affected with a mitochondrial inherited disease will be effected?
                               mitochondrial hereditary        Biochem
What is the pattern of inheritance of Leber'sinheritance optic neuropathy?
                               with mitochondrial myopathie will be effected
                                                               Biochem
What % of kids born to father none, mitochondrial myopathies are inherited from mitochondria which is only inherited from the m
                                                               Biochem
Define variable expression nature and severity of the phenotype varies from one individual to another
                                                               Biochem
define incomplete penetrancewhen not all individuals with a mutant genotype show the mutant phenotype
define pleiotropy                                               effect on
                               one gene has more than oneBiochem an individual's phenotype, autosomal dominant defects are
define genetic imprinting                                      Biochem
                               when differences in phenotype depend on whether the mutation is of paternal or maternal origin
                                                               Biochem
What is genetic anticipation? the severity of the diseas worsens or age of onset of disease is earlier in succeeding generations
                               when one allele of an           Biochem
What does the term 'loss of heterozygosity' mean allele pair is lost. An example is when a patient inherits or develops a muta
                               a mutation                     Biochem
What is a dominant negitive mutation? that exerts a dominant effect because the body cannot produce enough of the norma
                               Osteogenesis what disease Biochem type mutation
                                                               and what
the COL1A gene mutation is associated withimperfecta;dominant negitive of mutation is this
                                                              Biochem
define Linkage Disequilibrium the tendency for certain alleles at two linked loci to occur together more often thatn expected by c
                               p^2 +2pq + q^2 =1 and          B
What is the formula for Hardy-Weinberg equilibrium?p+q=1 iochem
                               p and q are the p and q and Biochem =
                                                              what 2pq
in the Hardy-Weinberg equation, whatare each separate alleles; is 2pq heterozygote
                               1.There is no mutation occuring at the
                                                              Biochem
What are the four assumptions of the Hardy-Weinberg equilibrium locus2. There is no selection for any of the geno types at th
                               sensitivity to radiation what as a of a DNA
                                                              Biochem
Bloom's syndrome is characterized by sensitivity to as a resultresult of repair defect
                               xeroderma pigmentosum          Biochem
Skin sensitivity to UV light secondary to a DNA repair defect is characteristic of what?
                               DNA repair a ___
The main defect in Ataxia-telangiectasi is defect             Biochem
                               X-rays                         Biochem
In ataxia-telangiectasia DNA damage caused by what source cannot be repaired
                               cross-linking agents
Fanconi's anemia is caused by what typr ofagents              Biochem
                               defective excision repair      Biochem
What is the specific defect in Xeroderma pigmentosa such as uvr ABC exonuclease; have inability to repair thymidine dimer fo
                                by exposure of DNA to UV Biochem
Thymidine dimers are formed dimers are on same side light, are the dimers formed on the opposing strands of a DNA molecu
                                with xeroderma pigementosa?   Biochem
What is commonly associateddry skin, melanoma and other cancers
                               autosomal recessive
What is the inheritance pattern of xeroderma pigmentosa Biochem
                               hypoglycmeia, jaundice, cirrhosis
What are the symptoms of Fructose intolerance                 Biochem
                               defiency intolerance and how is it recessive
                                                              Biochem
What is the priamry defect in Fructose of aldolase B, autosomal inherited?
                               deficent aldolase B causes the accumulation of Fructose 1-phosphate which acts as a phosphate
Why do people with fructose intolerance become hypoglycemic?  Biochem
                               decrease intake                Biochem
What is the treatment of fructose intolerance? of both fructose and sucrose (glucose + fructose)
                               defect
What causes Essential Fructosuria in fructokinase             Biochem
                               asymptomatic, benign, Fructose appears in blood and urine
What are the signs and symptoms of essential fructosuria Biochem
                               Galactosemia                   Biochem
A patient presents with cataracts, hepatosplenomegaly, and mental retardation, what is the Dx?
                               Absence                        Biochem
What is the cause of galactosemia? of galactose-1-phosphate uridyltransferase; accumualtion of toxic substances (galactito
What is the Tx of galactosemia?                               Biochem
                               Exclude galactose and lactose (galactose +glucose) form diet
                               Lactase defiency, intolerance?  products
What is the cause Tx and symptoms of Lactaseavoid diaryBiochem or add lactse pills to dietsymptoms bloating, cramps, osmo
                               Age-dependnet and/or hereditary (blacks and Asians)
What is the epidemiology of lactose intolerance               Biochem
                               dehydrognease deficiency Biochem
What is the result of pyruvate backup of substrate (pyruvate and alanine) resulting in lactic acidosis
                               alcoholics due to B1 defiecincyBiochem
what group of people can be seen with pyruvate dehydrognease deficiency
                                amino acids
What are the purely ketogneiclysine and leucine               Biochem
                               neurologic defects; increase Biochem
                                                              intake
What are the findings and treatment of pyruvate dehydrogenase of ketogenic nutrients
                               Glucose-6-phosphate dehydrogenase
                                                              Biochem
What is the rate-limiting enzyme in the Hexose-Monophosphate shunt?
                               decrease defiency               necessary
What is the biochemical effect of G6PD in NADPH which isBiochem to reduce glutathione which in turn detoxifies free radical
                               hemolytic anemia;oxidizing agents( fava beans, sulfonamides, primaquine) and antituberculosis.
                                                              Biochem
in G6PD deficiency the decrease in NADPH can lead to _____ if exposed to _____
                               Heinz Bodies:                  Biochem
What is the lab symptoms of G6PD defiencyaltered hemoglobin precipitate in RBC
                               X-linked recessive; blacks Biochem
What is inheritance of G6PD dfiency and what population is effected more often
                               Glycolytic with hemolytic anemia
                                                              Biochem
What enzyme defiencies are associatedenzyme deficiencies1. Hexokinase2.glucose-phosphate isomerase3.aldolase4.triose-p
                               RBC's metabolize glucose Biochem
Why are RBC so susceptible to Glycolytic enzyme def. anaerobically (no mitochondria) and depends on glycolysis
                               Glucose-6-phosphatase deficiency; also known as Type I Glycogen Storage disease
 Von Geirke's disease is a result of?                         Biochem
                               severe disease                  increased
What are the findings in Von Gierke'sfasting hypoglycemia,Biochem glycogen in the liver
                               lysosomal alpha-1,4-glucosidase defiency
Pompe's disease is caused by a defect in?                     Biochem
                               Cardiomegaly and systemic findings, leading to early death.Pompe's trashes the Pump. (Heart, L
                                                              Biochem
What are the findings in Pompe's disease and what is it alternate name
                               deficiency of debranching enzyme alpha-1,6-glucosidase
Type III Glycogen storage disease is a defiency of ?          Biochem
                               increased glycogen in skeletal muscle
                                                              Biochem
What are the findings in McArdles's disease and what is the problemdue to a Glycogen phosphorylase defiency strenuous exer
                                 the four Gierke'sPoor-PompesCarbohydrate-Cori'sMetabolism-McArdles
What is a good pnuemonic forVery-Vonglycogen storage diseases Biochem
                               defect in                      Biochem
What is the etiology of Homocystinuria cystathionine synthase. Two forms:1. deficiency 2.decreased affinity of synthase for pyri
                               1. For a defiency in cystathionine synthase tx by decrease Met and increase Cys in diet2.for decr
What is the treatment of Homocystinuria                       Biochem
                               Homocysteine accumulates in urine and cystine becomes essentialMethionine and it's metabolite
what are the signs and symptoms of Homocystinuria             Biochem
                               inheritied defect o the tubularBiochem
                                                               amino
What is the cause of Cystinuria and what are the signs/symptoms acid transporter for Cystine, ornithine, Lysine and Arginine in
                               cystine
What is a complication of cystinuria kidney stones            Biochem
                               Acetazolide to is a possible consequence of not treating
                                                              Biochem
What is the treament of Cystinuria and whatalkinlize the urinecystine kidney stones due to excess cysteine
                               COLCys,Ornithine, Lysine and   Biochem
the transporter for what amino acids is defective in cystinuria Arginine
                               CNS defects, mental retardation and death. Urine smells like maple syrup
What are the symptoms of Maple syrup Urine disease            Biochem
                                decreased Alpha-ketoacid dehydrogenase.blocks degradation of branched amino acidsIle. Val. L
What is the defect in Maple Syrup Urine disease                 Biochem
                                both derived in common          Biochem
What do melanin and Norepinephrine havedirectly from dopaminePhenylalanine to tyrosine to Dopa to Dopamin
                                both derived form
What to thyroxine and Dopa have in common tyrosine Biochem
                                 derived thyroxine Dopa dopamine NE,
What biological chemicals aretyrosine, form phenylalanine Biochem Epinephrine and Melanin
                                Niacin, 'Serotonin, melatoninBiochem
Tryptophan can be used to make what three chemicals
                                N
What is NAD/NADP made formiacin, 'Serotonin, melatoninBiochem
                                 what compound
Histamine is synthesized formHistidine                          Biochem
                                Porphyrin which is then
Hglycine is used to make what important compound usedBiochem Hemeto make
                                Arginine
Creatine and Urea are both made from?                           Biochem
                                either 1.decreased phenylalanie hydroxylaseor 2. decreased tetrahydrobiopterin cofactor
What is the primary defect(s) found in Phenylketoneuria Biochem
                                tyrosine.
In PKU, what amino acid becomes essential                       Biochem
                                phenyalanine builds upe leading to phenylketones in the urine
In PKU what builds up and what can be found in the urine Biochem
                                phenylacetate, phenyllactate,Biochem
What three phenyl ketones build up in the urine of PKU patients  phenylpyruvate
                                Mental retardation, fair skin, Biochem
What are the findings in PKU and what is the treatment eczema, musty body odorTx. Decreasee phenylalanin (nutrasweet) a
                                congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine
What is the primary defect in Alkaptonuria                      Biochem
                                Dark Urine                      Biochem
What are the symptoms of Alkaptonuria from alkapton bodies; also connective tissue is dark, may have arthralgias. Bengin dis
                                Albinism, can't synthesize melanin from tyrosine
A congenital deficiency of tyrosinase would lead to             Biochem
                                lack of albinism                Biochem
What event in embryology can causemigration of neural crest cells to skin (form melanocytes)
                                skin cancer
albinism increase risk of developing what                       Biochem
                                 Severe Combined Immnuodeficiency (SCID)?
What genetic error can cause Adenosine deaminase deficiency     Biochem
                                Purine salvage pathway.         Biochem
How does adenosine deaminase defiency cause SCID ADA normal converts adenosine to inosinewithout it ATP & dATP build
                                Absence                         Biochem
What causes Lesch-Nyhan syndrome of HGPRTase, (normally converts hypoxanthine to IMP and guanine to GMP) Lacks Nu
                                X-linked recessive; increase Biochem production. Retardation, self mutalation, aggression, hyp
                                                                in uric acid
How is Lesch-Nyhan syndrome inheritied andwhat is the result and symptoms
                                Ehlers-Danlos syndrome
A patient presents with1. Hyperextensible skin2. TendencyBiochem to bleed3.Hypermobile jointsyou astutely Dx them with
                                Faulty Ehlers-Danlos syndrome
What is the predominant problem in collagen synthesis           Biochem
                                10 Ehlers-Danlos syndromeBiochem
What is the inheritance pattern oftypes of this syndromeType IV-Auto DominantType VI-Auto RecessiveType IX- X-linked reces
                                trisomy 21 chromosomal imbalance
What is the genetic problem in Down's Syndrome                  Biochem
                                1:800; increased risk with advanced factors
                                                                Biochem
What is the prevalence of Down's syndrome and what are the risk maternal age
                                Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart pro
What is the phenotype of Down's syndrome                        Biochem
                                1:1500 males: can be in feamales is
                                                                Biochem
What is the prevalence of Fragile X- associated mental retardation a multi-step process
                                X-linked; progressive expansion of unstable DNA causes failure to express gene-encoding RNA-
What is the genetic mechanism of Fragile X MR                   Biochem
                                mental                          Biochem
What is the phenotype of Fragile X retardation, characteristic facial features, large testes
                                AR single missense mutation prevalence globin; 1:400 blacks
                                                                  in the beta
Sickle cell anemia is caused by what defect and what is it'sBiochem
                                recurrent painful               Biochem
Siclkle cell anemia patients often present with crisis and increased susceptibility to infections
                                pulmonary infections, exocrine pancreatic insufficiency, infertility in men
What is the clinical picture of a patient with cystic fibrosis Biochem
                                Cystic fibrosis and it's inheritance
                                                                mutations
What is the genetic mech. Of AR; multiple loss-of-function Biochem in a chloride channel
                                1:2000 whites; very rare among Asians
What is the prevalance of cystic fibrosis                       Biochem
                                Multiple café-au-lait spots, Biochem
What is the characteristic findings in Neurofibromatosis neurofibromas increased tumor susceptibilty
                                AD, multiple loss-of function Biochem in a signaling molecule
what is the genetic mechanism of Neurofibromatosis              mutations
                                1:3000 with 50%
What is the prevalandce of Neurofibromatosis being new mutationsBiochem
                                muscular weakness and degeneration
What is the clinical picture of Duchenne's muscular dystrophy   Biochem
                                X-linked recessive;caused dystrophy
                                                                Biochem
What is the genetic mechanism of Duchenne's muscular by multiple loss-of-funtion mutations in a muscle protein
                                1:300; 33% new mutations Biochem
What is the prevalence of Duchenne's musc. dys.
                                1:10000,
What is the prevalence of osteogenesis imperfecta               Biochem
                                increased susceptibility        Biochem
What is the phenotype in Osteogenesis imperfecta to fractures;connective tissue fragility
                                1:10000
What is the prevalence of Phenylketonuria                       Biochem
                                child abuse
What is osteogenesis imperfecta often confused with             Biochem
                                abnormal Collagen Type I what genetic problem and inheritance
                                                                Biochem
The most common form of Osteogenesis imperfecta hassynthesis;Autosomal dominant
                                Osteogenesis imperfecta;disease of abnormal collagen synthesis resulting in fractures and transl
                                                                is the diagnosis
A child is born with multiple fractures and blue sclera what Biochem
                                serine + palmitate
What are the components of sphingosine                          Biochem
Sphingosine + fatty acid yields ceramide                        Biochem
Ganglioside is made up of what                                   sialic acid
                                Ceramide + oligosacharide +Biochem
                                Ceramide +
What are the components of Cerebroside glucose/galactose        Biochem
                                Ceramide + phosphorylcholine
What are the components of Sphingomyelin                        Biochem
                                Alpha-galactosidase A common clinical problem
                                                                Biochem
What is the cause of Fabry's disease and what is the deficiency; gives accumulation of ceramide trihexoside causing renal failur
                                X-linked recessive
What is the inheritiance pattern of Fabry's disease             Biochem
                                optic atrophy, spasticity, early death
What are the clinical signs of Krabbe's disease                 Biochem
                                accumulation of galactocerebroside in up of what compound in what disease
                                                                Biochem
Absence of Galactosylceramide Beta-galactosidase leads to thebuildthe brain; Krabbe's disease
                                Autosomal recessive
What is the inheritance of Krabbe's disease                     Biochem
                                Gaucher's disease               Biochem
Glucocerebroside accumulation in the brain, liver, spleen, and bone marrow are characteristic of
                                Beta-glucocerebrosidase
Gaucher's disease is caused by a deficiency of                  Biochem
                                Gaucher's cells with the characteristic
                                                                disease
What is the pathogneumonic cell type founde in Gaucher'sBiochem 'crinkled paper' appearance of enlarged cytoplasm
                                Autosomal recessive
What is the inheritance pattern of Gaucher's disease            Biochem
                                Niemann-Pick disease            Biochem
A build up of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells and tissues is found in what disease
                                deficiency of Beta-glucocerebrosidase; autosomal
                                                                Biochem
What is the biochemical defect in Nieman-Pick disease and how is it inherited recessive
                                GM2-ganglioside accumulation; Tay-Sachs disease
                                                                Biochem
Absence of hexosaminidase A results in the acumulation of what molecule that is characteristic of what disease
                                cherry red Tay-Sach's disease on Physical
                                                                Biochem
What is the most distinguishing finding inMacula; these patients die by 3 exam
                                  and carrier frequency in Tay-Sach's
                                                                 Jews of
what is the inheritance patternAutosomal recessive; 1:30 inBiochem European descent and 1:300 in the general populaition
                                sulfatide in the brain, kidney, Biochem peripherla
                                                                liver, and
Defiency of arylsulfatase A results in the accumulation of what molecule where nerves. Characteristic of Metachromatic Leuko
                                deficiency of arylsulfatase A; Biochem recessive
                                                                Autosomal
What is the biochemical defect in Metachromatic leukodystrophy and what is the inheritance pattern
                                Hurler's syndrome               Biochem
A patient presents with corneal clouding and mental retardation that is, based on family history, inherited in an Autsomal recess
                                Alpha-L-iduronidase defiency leads to corneal clouding and mental retardation
What is the characteristic defect in Hurler's syndrome          Biochem
                                deficiency of iduronate sulfatase; X-linked recessivemild form of Hurler's
                                                                Biochem
Hunter's syndrome is characterised by what biochemical problem and how is it inherited
                                mild mental retardation but no corneal clouding
What is the finding of Hunter's syndrome on H&P                 Biochem
What is PCR?                                                    Biochem
                                Lab procedure used to synthsize many copies of a desired fragment of DNA
                                1.                               Cool DNA
How do you do PCR? (4 steps) Heat DNA to denature. 2. Biochem and let the primers aneal. 3.Heat-stable polymerase repl
                                SCID, Lesh-Nyhan, CF, familial hypercholesterolemia retinoblastoma, sickle cell, B-thalassemia,
What are some genetic diseases detectable by PCR?(11) Biochem
What gene is involved in SCID?  adenosine deaminase             Biochem
                                HGPRT
What gene is involved in Lesh-Nyhan syndrome?                   Biochem
                                CFTR
What gene is involved in cystic fibrosis?                       Biochem
                                LDL-R
What gene is involved in familial hypercholesterolemia? Biochem
                                Rb
What gene is involved in retinoblastoma                         Biochem
                                ? cell and ?-thal?
What gene is involved in Sickle globin gene                     Biochem
How do you do a Southern Blot?                                  Biochem
                                Electrophorese DNA on a gel transfer to a filter and denature the DNA expose to a labeled DNA
How do you do a Northern Blot?                                  Biochem
                                Electrophorese RNA on a gel transfer to a filter expose filter to a labeled DNA probe visualize the
How do you do a Western Blot?                                   Biochem
                                Separate protein by electrophoresis transfer to a filter expose to a labeled antibody visualize Ab b
                                Separate                        Biochem
How do you do a Southwestern blot? protein by electrophoresis transfer to a filter expose to a labeled DNA probe visualize D
                                Rapid lab test in which an antibody or
What is an ELISA (enzyme linke immunosorbant assay)? Biochem an antigen(usually collected from a patient)is exposed to an
                                higher
The lower the Km, the (higher/lower/remains same) the affinity  Biochem
                                - competitive inhibitors?       Biochem
What are the characteristics of resemble substrates- bind reversibly to active sites of enzymes- high substrate concentrations o
                                - noncompetitive inhibitors? Biochem
What are the characteristics of doesn't resemble substrate- bind to enzyme but not necessarily at active site- inhibition can't be
                                rapidly dividing cells cells? Biochem
Which cell cycle phase is shorter in rapidly dividinghave a shorter G1 phase
                                G1 and duration?
What cell cycle phases are variable inG0                        Biochem
                                mitosis
Which cell cycle phase is usually shortest?                     Biochem
                                G0
Most cells are in which cell cycle phase?                       Biochem
What are the cell cycle phases?                                 Biochem
                                Mitosis (Prophase-Metaphase-Anaphase-Telophase)G1 (Gap or Growth)S (Synthesis of DNA)G2
                                glycosylated lipids what? Biochem
Only the cytoplasmic side of membrane containsor proteins
                                - composition?                  Biochem
What is the plasma membrane cholesterol (~50%, promotes membrane stability)- phospholipids (~50%)- sphingolipids-glycolipi
                                - RBC membranes- myelin- bile- surfactant (DPPC--dipalmitoyl phosphatidylcholine)- also used in
                                                                Biochem
On which cells is phosphotidylcholine (lecithin) a major component?
What drugs act on microtubules?                                 Biochem
                                - mebendazole/thiabendazole (antihelmintic)-taxol (anti-breast cancer)- griseofulvin (antifungal)-c
                                - a microtubule?                Biochem
What are the characteristics of cylindrical structure 24nm in dia and variable length- helical array of polymerized dimers of alpha
                                 microtubules found?
On what cellular stuctures areflagella, cilia, mitotic spindlesBiochem
                                hydroxylationendoplasmic lysyl residues?Where does it occur?What nutrient does it require?
                                                                Biochem
What is the first step in forming collagen from prolyl and reticulumvitamin C
                                fibril is made of moleculescollagen fibril--many staggered collagen molecules linked by lysyl oxida
                                                                molecule?
What is the difference between collagen fibril and collagenBiochem
                                 by the formation                Biochem
How is collagen fibillar structure reinforced? of covalent lysine-hydroxylysine crosslinks between tropocollagen molecules
                                 procollagen collagen fibrils? Biochem
How does procollagen molecules become molecules cleaved at terminal regions by peptidases to become insoluble tropocollag
                                 - T (taut)                      Biochem
What are the 2 forms of hemoglobin? form has low affininty for oxygen- R (relaxed) form has 300x higher affinity for oxygenHb
                                 hemoglobin is composed of 4 polypeptide subunits (2 alpha and 2 beta)
Describe the subunits for hemoglobin?                            Biochem
                                 CO has 200x greater affinity for hemoglobin than for oxygen
Carbon monoxide has a greater affinity for what molecule?Biochem
                                 increased                       Biochem
How is hemoglobin structure regulated? Cl-, H+, CO2, DPG, and temperature favor T form (low affinity of O2)--shifting the disso
                                                                 Biochem
What is methemoglobinemia?blood disorder where methemoglobin, an oxidized form of hemoglobin (ferric, Fe3+) that does no
                                   binds amino                   Biochem
How is CO2 transported from- tissue to lungs? acids in globin chain (at N-terminus), not to heme- favors T form of Hb (thus pro
                                 Ca2+ -> activates troponin Biochem
How does calcium cause skeletal muscle contraction? -> moves tropomyosin -> exposes actin-bining site -> allows actin-myo
                                 Ca2+ -> binds to calmodulin Biochem smooth muscle doesn't have troponins!
How does calcium cause smooth muscle contraction?                because
What is the sodium pump? Na-K ATPase                             Biochem
                                 3 Na go out and 2 direction are moved
What molecules, how many of them, and in whatK go in Biochem across the membrane by the sodium pump?
                                                                 Biochem
Where is the sodium pump? on the membrane, with the ATP site on the cytoplasmic side of the pump
                                 phosphorylated
During the cycle of the sodium pump, it is __.                   Biochem
                                 - pump?                         Biochem
What drugs inhibits the sodium Ouabain inhibits the pump by binding to the K+ site- cardiac glycosides (digoxin, digitoxin) also i
                                                                 Biochem
How are enzymes regulated? 1. enzyme concentration alteration (syntesis and/or destruction)2. covalent modification (eg. phos
What are the fat soluble vitaminsD,A,K,E                         Biochem
                                 fat soluble vitamins why
What vitamins more commonly cause toxicity andb/c theseBiochem    accumulate in fat
                                 Malabsorption syndromes ( cystic fibrosis and sprue) and mineral oil intake
                                                                 Biochem
What two general types of things will cause fat soluble vitamin deficiency
                                 B12 which is stored in from the
What water soluble vitamin does not wash out easilythe liver bodyBiochem
                                 B complex vitamins (B1,2,3,5,6,12), Vit C, Biotin, Folate
What are the water soluble vitamins                              Biochem
                                 visual pigments (retinal)retinolnight blindness and
                                                                 Biochem
What is the function of Vit A, it's alternate name, and symptoms in deficiency dry skin
                                 Vit A (Retinal)                  alopecia
Arthralgia's, fatigue, headaches, skin changes, sore throat,Biochem are symptoms foundin what vitamin deficiency
                                  by polyneuritis, cardiac to Vit B1 and edema
                                                                 Biochem
what disease is characterized Beriberi (Ber1BerI), due pathologydeficiency and what is the cause
                                  vitamin and Wernicke-Korsakoff syndromediseases of it's deficiency
                                                                 characteristic
What is the alternate name of Beriberi B1 and what are the Biochem
                                 alcholism and seen in
What scenerios are vit B defieciencies often malnutrition Biochem
                                  to wet beriberi?               Biochem
What manifestation is specifichigh output cardiac failure (dilated cardiomyopathy)
                                                                 Biochem
What is the function of Vit B1 it becomes Thiamine Pyrophosphate (TPP) and is used in:oxidative decarboxylation of Alpha-keto
                                 cofactor in oxidation           Biochem
What is the function and alternate name of Vit. B2 and reduction (FAD,FMN)RiboFlavin
                                 Riboflavin is B22 C's=cheilosis and Corneal vascularization and also Angular stomatitis
                                                                 Biochem
What are the characteristic findings seen in Riboflavin deficiencies
                                 2                               Biochem
What is the rule of 2's for Vit B2F's, 2C's and 2ATP2 F's=FAD&FMN2 C's = signs of deficiency cheilosis and corneal vasculariz
                                  Vit B3, problems in deficiency, malignant carcinoid syndrome,
                                                                 Biochem
What is the alternate name of niacinPellagraHartnup disease, common cause of defieciency and INH
                                 part of and from what can derived from
                                                                 Biochem
What is Niacin's function in the body NAD, NADP and is it be derived tryptophan
                                 3 D's                           Biochem
What are the symptoms of PellagraDiarrhea, Dermatitis, Dementia, and also Beefy glossitis
How many ATP are made from NiacinNiacin=NAD niacin is B3=3 ATP   Biochem
                                 constituent of                  Biochem
What is vit B5's function and alternate nameCoA, part of fatty acid synthase. Cofactor for acyl transfersPantothenate (Pantothen
                                  B5 deficiency                  Biochem
What are the symptoms in Vit dermatitis, enterititis, alopecia, adrenal insufficiency
                                                                 Biochem
What is the function of Vit B6 B6 (pyridoxine) is converted to pyridoxal phosphatea cofactore in transamination reactions (ALT &
                                 INH and oral contraceptivesconvulsion, hyperirritability
What can induce pyridoxine deficiency? Symptoms?                 Biochem
                                                                  Pyruvate
What is the function of Biotin?Cofactor for carboxylations1.Biochem to oxaloacetate2. Acetyl-CoA to malonyl Co-A3. Prprionyl-
                                 dermatitis, enteritisantiobiotic use and ingestion of raw eggs
                                                                 Biochem
What are the signs of Biotin deficiency and what are possilble causes?
                                 Avidin
What molecule in egg white binds up Biotin and causes deficiency Biochem
                                 Foilic Acid
What is the most common vitamin deficiency in the United Biochem States?
                                 Macrocytic                      Biochem
What are the signs of Folate deficiency? megaloblastic anemiasprue
                                 coenzyme for 1-carbon transfer;methylation reactionsimportant for the synthesis of nitrogenous b
What is the function of folic acid?                              Biochem
                                 PABA is the and what antibiotics and dapsone are
                                                                 Biochem
What is the folic acid precursor in bacteria precursorsulfa drugs exploit this fact? PABA analogs
                                 1. Macrocytic megaloblastic Biochem
What are the signs and symptoms of vit B12 deficiency? anemia2. Neurologic symptoms-optic neuropathy, subacute combine
                                 and what is B12's other name    Biochem
What is the source of Vit B12 found only in animal productscobalamin
What is B12 used for in the body?                                Biochem
                                 Cofactor for homocysteine methylation and methylmalonyl-CoA handling
                                 synthesized only in microorganismsstored primarily in liver
Where is B12 synthesized and stored                              Biochem
                                  Vit B12 deficiency?            Biochem
What are the usual causes of 1. Malabsorption- Sprue, enteritis, Diphyllobthrium latum (Dr. Lohr's fish tapeworm)2.lack of intrin
                                 Schilling test
What test is used to detect B12 deficiency                       Biochem
                               Scurvyswollen and what are Biochem
                                                               the findings?
What diseases is caused by Vit C deficiency gums, bruising, anemia, poor wound healing
                               1. Cross linking of collagen-hydroxylation of proline and lysine in collagen synthesiskeeping iron in
What is the function of vitamin C?                             Biochem
                                consumed in milk?
What is the form of vitamin D D2 = ergocalciferol              Biochem
                                found in sun-exposed
What is the form of Vitamin D D3 = cholecalciferol skin? Biochem
                               25-OH D3
What is the sotrage form of Vitamin D?                         Biochem
                               1,25 (OH)2 D3 = active form Biochem
What is the active form of Vitamin D?
                               increase intestinal absorption of Calcium and phosphate
What is the function of Vitamin D?                             Biochem
                                caused by Vitamin D deficiency?in adultshypocalcemic tetany
What diseases conditions are Rickets in kidsOsteomalacia Biochem
                                excess?                        Biochem
What are the findings in Vit D Hypercalcemia, loss of appetite, stupor
                                 of hypercalcemia?             Biochem
What are the possible causes1. Vit D intoxication2. Malignancy3. Hyperparathyroidism4. Milk-alkali syndrome5. Sarcoidosis6. P
                               in sarcoid, epitheliod macrophages convert vitamin D into it's active form leading to increased abs
How does sarcoidosis cause hypercalcemia?                      Biochem
                                                               Biochem
What is the function of Vit E? antioxidant; especially in Erythrocytes where it protects them from hemolysisVit E is for Erythrocy
                               Increased                       Biochem
What will a defieciency in Vit E lead to? fragility of erythrocytes
                               catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with clot
What is the function of Vitamin K?                             Biochem
                                 dependent and what anti-clotting and acts as a Vit
                                                               Biochem
What clotting factors are Vit KFactors II, VII, IX, X and Protein Cdrug SWarfarin K antagonist?
                               synthesized by ntestinal floraprolonged
                                                               deficiency?
Where is Vit K synthesized and what is one cause of Vit K Biochem broad spectrum antibiotic use can kill off the flora can cau
                                Vit K deficiency?              Biochem
What problems do you see in Neonatal hemorrhage with increased PT increased aPTT, but normal bleeding time in general, m
What is the composition of ATP?                                Biochem
                               Base(adenine), ribose, 3 phosphoryls
                                the 2 phosphoanhydride bonds?
What is the energy content of 7 kcal/mol each                  Biochem
                               38 ATP                          Biochem
How many moles of ATP are generated aerobically through malate shuttle?
                               36 ATP                          Biochem
How many moles of ATP are generated aerobically through G3P shuttle?
                               2 ATP
How many moles of ATP are generated anaerobically?             Biochem
Name the activated carriers with associated moleclues. Biochem
phosphoryl                     ATP                             Biochem
electrons                      NADH, NADPH, FADH(2) Biochem
Acyl                           coenzyme A, lipoamide           Biochem
CO(2)                          biotin                          Biochem
one carbon units               tetrahydrofolates               Biochem
CH(3) groups                   SAM                             Biochem
aldehydes                      TPP                             Biochem
Glucose                        UDP-Glucose                     Biochem
Choline                        CDP-choline                     Biochem
                               increase vascular               Biochem
What is the major function of the a1 receptor? smooth muscle contraction
                               -decrease sympathetic outflow, -decrease insulin release
What is the major function of the a2 receptor (2)?             Biochem
                               increase HR, -inc. conntractility, -inc. renin release,-inc. lipolysis, -inc. aq. Humor formation
What is the major function of the B1 receptor (5)?             Biochem
                               vasodilation, bronchodilation,Biochem
What is the major function of the B2 receptor (3)?               inc. glucagon release
                               CNS
What is the major function of the M1 receptor?                 Biochem
                               decrease heart rate
What is the major function of the M2 receptor?                 Biochem
                               increase exocrine
What is the major function of the M3 receptor? gland secretionsBiochem
                               relax renal vascular smooth muscle
What is the major function of the D1 receptor?                 Biochem
                               modulate transmitter release, esp. in brain
What is the major function of the D2 receptor?                 Biochem
                               increase mucous production,Biochem bronchioles, -pruritis, -pain
What is the major function of the H1 receptor (4)?              -contract
                               increase gastric acid
What is the major function of the H2 receptor (4)? secretion   Biochem
                               increase vascular               Biochem
What is the major function of the V1 receptor? smooth muscle contraction
                               increase water permeability and reabsorption in the renal collecting tubules
What is the major function of the V2 receptor?                 Biochem
                               phospholipase C, through? Biochem
What second messenger system does Gq work PIP2 to IP3 and DAG DAG works through protein kinase C IP3 increases IC c
                               adenylcyclase converts ATP to cAMP
What second messenger system does Gs work through? Biochem to phosphorylate protein kinase A
                               adenylcyclase reduces cAMP levels and
What second messenger system does Gi work through? Biochem protein kinase A is reduced
Associate the following signal jmolecule precursors.           Biochem
ATP                            cAMP via adenylate cyclase Biochem
GTP                            cGMP via guanylate cyclase Biochem
glutamate                                                      Biochem
                               GABA via glutamate decarboxylase (requires vit. B6)
Choline                                                        Biochem
                                ACh via choline acetyltransferase
Arachidonate                                                   Biochem
                                prostaglandins, -thromboxanes, -leukotrienes
Fructose-6-phosphate                                           Biochem
                                fructose-1,6-bis-P via PFK (rate limiting step of glycolysis)
1,3-BPG                                                        Biochem
                                2,3-BPG via bisphosphoglycerate mutase
                                catabolic processes
How is NAD+ generally used metabolically?                      Biochem
                                anabolic processes (steroid and FA synthesis), repiratory burst, P-450
How is NADPH generally used metabolically?                     Biochem
                                                               Biochem
Where is NADPH generated?is a product of HMP shunt and the malate dehydrogenase rxn
Where is SAM generated? From ATP and methionine Biochem
                                                               Biochem
What is the function of SAM? transfers methyl units to wide variety of receptors
                                vitamin B12
What is cofactor required for methionine (SAM) regeneration?   Biochem
Mnemonic for SAM.               SAM the methyl donor man Biochem
                                Beta the mitochondria (3)? Biochem
What type of metabolism occurs in oxidation, -Acetyl-CoA production, -Kreb's cycle
                                glycolysis, -fatty acid synthesis, -HMP shunt, -protein synthesis (RER), -steroid synthesis (SER)
What type of metabolism occurs in the cytoplasm (5)?           Biochem
                                -gluconeogenesis,              Biochem
What type of metabolism occurs in the both (3)? -urea cycle, heme synthesis
                                hexokinase throughout the body, -GK in liver and has lower affinity but higher capacity for glucose
Contrast hexokinase and glucokinase.                           Biochem
                                only HK
Contrast hexokinase and glucokinase.is feedback inhibitedBiochemby G6P
                                g                              Biochem
Contrast glucagon and insulin. lucagon phosphorylates stuff, -turns glycogen synthase off and phosphorylase on
                                citrate of TCA?
What is the major regulatory enzymesynthase                    Biochem
                                 TCA?
What is the major inhibitor of ATP, long-chain acyl-coA Biochem
How is TCA regulated?                                          Biochem
                                by need for ATP and supply of NAD+
                                 enzymes of glycolysis and pyruvate
                                                               Biochem
What are the major regulatoryPFK and pyruvate dehydrogenase oxidation?
                                 of glycolysis and pyruvate oxidation?
                                                               Biochem
What are the major activatorsAMP, fructose2,6-bis-P, fructose 1,6-bis-P in muscle, CoA, NAD, ADP and pyruvate
                                 glyc and pyr ox?              Biochem
What is the major inhibitor of citrate (FA and ketone bodies) ATP and cAMP, -acetyl CoA, NADH, ATP
                                decreased glucagon and increased insulin
What are the effector hormones of glyc and pyr ox?             Biochem
                                 enzymes of gluconeogenesis (3)?
                                                               Biochem
What are the major regulatorypyruvate carboxylase, PEP carboxykinase and F-1,6-bis-P
                                 of gluconeogenesis?           Biochem
What are the major activatorsAcetyl CoA for pyruvate carboxylase and cAMP for PEP carboxykinase and F-1,6-bis-P
                                glycogen glycogenolysis? Biochem
What is the major regulatory enzyme ofsynthase
                                ADP and AMP
What is the major inhibitor of glycogenesis? and F-2,6-bis-P   Biochem
                                for glycogenesis?
What is the effector hormone Glucagon                          Biochem
What suppresses glycogenesis?   insulin                        Biochem
                                cAMP, and
What are the activators of glycgenolysis? calcium ion          Biochem
                                insulin decreases, epi         Biochem
What are the effector hormones of glycogenolysis? and glucagon increases
                                glucose-6-P dehydrogenase Biochem
What is the major regulatory enzyme of pentose phosphate pathway (PPP)?
What is the activator of PPP? NADP+                            Biochem
What is the inhibitor of PPP? NADPH                            Biochem
What induces the PPP?           insulin                        Biochem
                                acetyl CoA carboxylase
What is the major regulatory enzyme of lipogenesis?            Biochem
                                Citrate
What is the activator of lipogenesis?                          Biochem
                                long-chain
What is the inhibitor of lipogenesis (2)? acyl-CoA, -cAMP Biochem
                                insulin increases, glucagon decreases
What are the effector hormones of lipogenesis (2)?             Biochem
                                 enzymes reductase
What are the major regulatoryHMG-CoAof cholesterol synthesis?  Biochem
                                cholesterol and cAMP
What is the major inhibitor of cholesterol synthesis (2)?      Biochem
                                insulin increases, glucagon Biochem
What are the effector hormones of cholesterol synthesis? decreases
                                service for                    Biochem
What is the major function of the liver? the other organs and tissues
                                most including gluconeogenesis, etc.
What are major pathways occur in the liver (8)?                Biochem
                                 used by liver?                Biochem
What are the main substratesFFA, -glucose, -lactate, -glycerol, fructose, -AA
                                glucose,-VLDL,-HDL,-ketoneBiochem
What are the major products of the liver (10)?                  bodies,-urea,-uric acid, -bile acids, -plasma proteins
                                -glucokinase,-glu-6-phosphotase,-glycerol kinase, -PEP carboxykinase, -fructokinase,-arginase,-H
What are the specialist enzymes of the liver?                  Biochem
                                 pathways of the brain (2)?
What are the major metabolic-glycolysis,-aa metabolism Biochem
                                 used by -aa and               Biochem
What are the main substrates-glucose,brain? ketone bodies when starved, -polyunsat FA in neonates
                                lactate
What are the major products of the brain?                      Biochem
                                 pathways of the heart?        Biochem
What are the major metabolicAerobic pathways like B oxidation and TCA cycle
                                used by heart?                  Biochem
What are the main substratesFFA, -some glucose, -lactate, -ketone bodies, VLDL and cholymicrom triacylglycerol
                               -lipoprotein lipase, -respiratory chain well-developed
What are the specialist enzymes of the heart (2)?               Biochem
                                - esterfication of FA's - lipolysis
What are the major metabolic pathways of the adipose tissue (2)?Biochem
                                used by -lipoprotein triacylglycerol
What are the main substrates-glucose,adipose tissue (2)? Biochem
                               -FFA, -glycerol
What are the major products of the adipose tissue (2)?          Biochem
                               -lipoprotein lipase,-hormone Biochem
What are the specialist enzymes of the adipose tissue (2)?sensitive lipase
                               rapid movement
What is the major function of fast twitch muscle?               Biochem
                               glycolysis
What is the major metabolic pathway of fast twitch muscle?      Biochem
                                fast twitch
What is the main substrate of glucose muscle?                   Biochem
                               lactate
What is the major product of fast twitch muscle?                Biochem
                               sustained muscle?
What is the major function of slow twitchmovement               Biochem
                               Aerobic pathways like B oxidation and TCA cycle
What is the major metabolic pathway of slow twitch muscle?      Biochem
                                slow twitch muscle?             Biochem
What is the main substrate of ketone bodies, -FFA, -triacylglycerol
                               lactate
What is the major product of slow twitch muscle?                Biochem
                               -lipoprotein lipase,             Biochem
What are the specialist enzymes of muscle (2)? and well developed resp chain
                               -glucokinase/hexokinase,-PFK,-pyruvate kinase,-pyruvate dehdrogenase
What are the irreversible enzymes of glycolysis (4)?            Biochem
                               -pyruvate carboxylase, -PEP Biochem
What are the irreversible enzymes of gluconeogenesis (4)?carboxykinase,-fructose-1,6-bisphosphotase, -glu-6-phosphotase
                               Pathway Produces Fresh
Mnemonic for gluconeogenesis irreversible enzymes? Glucose      Biochem
                               -produces ribose-5-P from G6P for nucleotide synthsesis,-produces NADPH,-part of HMP shunt
What is the function of PPP (3)?                                Biochem
                               transfers                        Biochem
What is the function of the Cori Cycle? excess reducing equivalants from RBC's and muscle to liver to allow muscle to function
                               By the loss of
How is glutamine converted to glutamate? amonium                Biochem
                               By the loss of amonium and reduction of NADP
How is glutamate converted to a-ketogluturate                   Biochem
How many enzyme activities does pyruvate dehydrognase Biochem3 possess
                               pyrophosphate, lipoic acid, Biochem
What are the cofactors of pyruvate dehydrogenase (5)? CoA, FAD and NAD
                               pyruvate+NAD+CoA                 acetyl-CoA
What rxn does pyruvate dehydrogenase catalyze? goes to Biochem +CO2+NADH
                               a-ketogluturate dehydrogenase complex
What complex is pyruvate dehydrogenase similar to?              Biochem
                               First the cofactors lipoic acid iochem
What is the easy way to remember4 B vitamins +of PDH complex?   B
                                                             6 Biochem
How many ATP equivalants are needed to generate glucose from pyruvate?
                               pyruvate metabolism?             Biochem
Name 6 common products of glucose, lactate, Acetyl CoA+CO2, OAA, Alanine
                               3NADH, 1FADH2, 2CO2, 1GTP per Acetyl CoA
What are the products of the TCA cycle?                         Biochem
How many ATP's per acetyl CoA?                              12 Biochem
                                various Kinky So She Fornicates More
                                                                Biochem
What is the mnemonic for the Cindy Is substrates of the TCA cycle? Often
                               NADH dehydrogenase, Cyt active proton transfer?
                                                                Biochem
What are the three sites in the electron transport chain forb/c1, and cytochrome oxidase aa3
                               rotenone, antimycin
What are the electron transport chain inhibitors? A, CN-, CO    Biochem
                               directly block ETC,              Biochem
What is the mechanism for the ETC inhibitors? cause decreased proton gradient
What does oligomycin do to ETC?                                 Biochem
                               ATPase inhibitor that increases proton gradient but not ATP production
                               2,4 DNP (dynamite)
What is an uncoupling agent to the ETC?                         Biochem
                               inc. membrane permeability, Biochem proton gradient and increases O2 consmption
What is the mechanism for the ETC uncoupler?                    decreases
T/F. Uncouplers stop ATP production? FALSE                      Biochem
                               glycogen fed state?
What are the products of the liver in theand fats/VLDL          Biochem
                               glucose and ketone bodies Biochem
What are the products of the liver in the fasting state?
Where does FA synthesis occur? cytosol                          Biochem
                               mitochondria, where it will beBiochem
Where does FA degradation occur?                                 used
                               via the carnitine shuttle
How does FA enter the mitochondria?                             Biochem
                               by cytoplasmic malonyl-CoA Biochem
How is FA entering the mitochondria inhibited?
                               via
How does FA enter the cytosol? citrate shuttle                  Biochem
                               HMG-CoA reductase                 syn.?
What enzyme catalyzes the rate limiting step of cholesterolBiochem
                               HMG-CoA
What step does this enzyme work on? to mevalonate Biochem
                               LCAT(lecethin-cholesterol acyltransferase)
How is most plasma cholesterol esterfied?                       Biochem
How do the statin drugs work?  they inhibit HMG-CoA reductase   Biochem
                               TG, apo C-II, apo E, B-48, apo A
What are the components of a cholymicron?                       Biochem
                               TG, FFA and remnant?
What are the components of a cholymicron apo E                  Biochem
Where are cholymicrons made?   small intestine                Biochem
                               lipoprotein lipase
What catalyzes cholymicron to cholymicron remnant?            Biochem
What catalyzes VLDL to IDL?lipoprotein lipase                 Biochem
Where is VLDL made?            liver                          Biochem
                               TG, Cholesterol ester, B-100, CII and E
What are the components of VLDL?                              Biochem
                               less
What are the components of IDL? TG, CE, B-100 and E Biochem
What catalyzes IDL to LDL? hepatic TG lipase                  Biochem
                               CE and
What are the components of LDL? B-100                         Biochem
                               modified LDL
What is a major component of atherosclerotic plaque?          Biochem
                               FA uptake to                   Biochem
What is the functioin of lipoprotein lipase? cells from choly's and VLDL's
                               degradation of stored
What is the function of hormone sensitive lipase? TG's Biochem
                               A-1 apolipoproteins?           Biochem
What is the mneumonic for major Activates LCAT B-100 Binds to receptor C-II is a Cofactor for LPL E mediates Extra (remna
                               AD genetic defect in LDL receptor
What is familial hyper-cholesteremia?                         Biochem
                               xanthomas, atherosclerosis Biochem
What are clincial syndromes of this disorder?                 homozygotes MI by age 30
                               delivers dietary TG to peripheral tissues delivers dietary cholesterol to liver
What is the function of cholymicrons (2)?                     Biochem
                                of cholymicrons (3)?          and eruptive xanthomas
What can occur as an excesspancreatitis, lipemia retinalis Biochem
                                                              Biochem
What is the function of VLDL?Delivers hepatic TG to peripheral tisssue
                                of VLDL?
What can occur as an excesspancreatitis                       Biochem
                                                              Biochem
What is the function of LDL? delivers hepatic cholesterol to peripheral tissues
                               by                             Biochem
How is LDL uptake undergone? target cells through receptor-mediated endocytosis
What does excess LDL cause(3)?                                and arcus
                               atherosclerosis, xanthomas, Biochem corneae
                               transfers cholesterol from periphery to liver acts as a repository for apoC and apoE
What is the functiion of HDL (2)?                             Biochem
                               liver
Where is HDL secreted from (2)? and small intestine           Biochem
                               rate limiting step of heme synthesis converts succinyl CoA and glycine to ALA
What is the function of aminolevulinate (ALA) synthase ? Biochem
                                and what inhibits it?
Where is ALA synthase foundmitochondria, heme                 Biochem
                               liver and bone marrow
In what tissue does heme synthesis occur (2)?                 Biochem
                                 heme synthesis?              Biochem
What is the committed step ofglycine+succ CoA to delta-aminolevulinate
                               porphyrias
What is the consequence of accumulated intermediates of Biochemheme synthesis?
                               inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
How does lead affect heme synthesis?                          Biochem
                               microcytic hypochromic anemia
Underproduction of heme causes what anemia?                   Biochem
How is heme catabolized?                                      Biochem
                               scavenged from RBC's and Fe+2 is reused
                               heme to biliverdin to bilirubinBiochem
What are the degradation product steps (3)?
                               sparingly                      to CNS transported by albumin
What some properties of bilirubin (3)? water soluble toxic Biochem
                                the body?                      with glucuronate excreted in bile
How is bilirubin removed fromcollected by liver, conjugatedBiochem
What is urobilinogen?                                         Biochem
                               an intestinal intermediate reabsorbed to blood and excreted in urine as urobilin
                               conjugated (direct/glucuronidated) and unconjugated(indirect/insoluble)
What are the sources of hyperbilirubinemia (2)?               Biochem
                                hyperbilirubinemia -block inBiochem
What are the some causes of massive hemolysis,(4)?             catabolism, -diplaced from binding sites on albumin, decreased exc
                               yellow, condition
What color is bilirubin and what is thejaundice of excess?Biochem
                               Leu and
What are the essential ketogenic AA? Lys                      Biochem
                               Ile, Phe, Try
What are the essential glucogenic/ketogenic AA?               Biochem
                               Met, Thr, Val,
What are the essential gluconeogenic AA? Arg, His             Biochem
                               PriVaTe TIM
What is the mneumonic for essential AA? HALL                  Biochem
                               Arg and His
What AA are required during periods of growth?                Biochem
                               Asp charged?
At body pH, what AA are positvely and Glu                     Biochem
                               Arg and Lys His                pH 7.4
At body pH, what AA are negatively charged? is neutral at Biochem
                               in Histones that
Where are basic AA found in high amounts? bind to negative DNABiochem
                                 Urea cylce substrates?       Biochem
What is the pneumonic for theOrdinarily, Careless Crappers Are Also Frivolous About Urination
What does this stand for?                                     Biochem
                               Ornithine, citrulline, carbamoyl-p, aspartate, arginosuccinate, fumurate, arginine, urea
                               liberates arachidonic acid from cell membrane
What is the function of phospholipase A2?                     Biochem
                                pathway yield?
What does the lipooxygenase leukotrienes                      Biochem
What is LT B4?                 neutrophil chemotactic agentBiochem
                                 (4)?                         Biochem
What do LT c4, D4 and E4 dobronchconstriction, vasoconstriction, contract smooth muscle, increase vascular permeability
                                yield?                        Biochem
What does the COX pathway thromboxanes, prostaglandins and prostacyclin
                                platelet aggregation and vasoconstriction
What is the function of Tx A2 (2)?                            Biochem
What is does PGI 2 inhibit (2)?                               Biochem
                                platelet aggregation and vasodilation
What does PGI stand for?        platelet gathering inhibitor Biochem
Where is insulin made?          B cells of pancreas           Biochem
                                No
Does insulin affect glucose uptake of brain, RBC's and liver? Biochem
                                adipose and skeletal
What tissues require insulin for glucose uptake? muscleBiochem
                                yes                           Biochem
Does insulin inhibit glucagon release by alpha cells of pancreas?
                                No
Is Serum C peptide present with exogenous insulin intake?Biochem
Insulin mneumonic                                             Biochem
                                insulin moves glucose into cells
Where are ketone bodies made?   liver                         Biochem
                                FA                            Biochem
How are ketone bodies formed? and AA converted to acetoacetate and b-hydroxybutyrate
                                during                        Biochem
When are ketone bodies formed (2)?prolonged starvation diabetic ketoacidosis
How are ketone bodies excreted? in urine                      Biochem
                                to 2 molecules of
How does the brain metabolize ketone bodies? acetyl coA Biochem
                                fruity(acetone)
What does breath smell like during ketoacidosis?              Biochem
                                acetoacetate
Which ketone body is detected in urine test (1 only)?         Biochem
                                                              Biochem
How is ethanol metabolized? ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+ acetalaldehyde ox to acetate by a
                                  ethanol
What is the limiting reagent ofNAD+ metabolism?               Biochem
                                zero order kinetics
By what rxn order kinetics does alcohol dehydrogenase operate?Biochem
                                                              Biochem
How does disulfiram work? inhibits acetylaldehyde dehydrogenase
What causes a hangover? acetylaldehyde accumulates Biochem
                                NADH/NAD increases            Biochem
What is the mechanism of ethanol hypoglycemia? in liver causes diversion of pyruvate to lactate and OAA to malate inhibits g
                                 affect occurs by chronic alcoholics
                                                              Biochem
What other physiological side fatty liver seen inthis hypoglycemia?
What is Kwashikor?              protein malnutrition          Biochem
                                small child
What is the clinical picture of Kwashikor?with swollen bellyBiochem
                                Malabsorption, Edema, Anemia, Biochem
Kwashikor results from a protein deficient MEAL (mneumonic) Liver (fatty)
What is Marasmus?                                             Biochem
                                Protein-calorie malnutrition resulting in tissue wasting

								
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