Neurofibromatosis (NF) by 33GRVMI


									     Neurofibromatosis (NF)
aka “von Recklinghausen disease”

          Brennan Coffey
            Logan Ernst
             Period 3
                 What is it?
• Neurofibromatosis is a class of genetic disorders
  that causes tumors to grow in the nervous system
  called neurofibromatoses
• The process begins in the myelin sheath that
  coats the nerve cell
• it causes a transformation that eventually leads
  to the growth of tumors that cause other
  disorders that can be seen in abnormalities such
  as skin changes and bone deformities
                  What is it?
• The disorder is most commonly inherited,
  however there is a chance that a mutation could
  develop and cause the disorder to arise
• nearly 30-50% of new cases arise out of random
  mutation, not genetic inheritance
• There are currently 3 different types of NF, they
  are NF type 1, NF type 2 and schwannomatosis
  which used to be classified as a type of NF2, but
  is more appropriately its own class
                    What is it?
•   To diagnose NF, a doctor would look at
•    skin appearance
•   bone abnormalities
•   Tumors
•    in addition to this they would also consider
    the predisposition to the disease as is
    indicated by family history
                  What is it?
• Many of the color abnormalities are evident as
  light brown spots on the skin
• two or more growths on the iris a tumor on the
  optic nerve
• an abnormal head circumference, abnormal
  developments of the spine, skull bone or tibia
• Symptoms for NF1 are generally mild and those
  who suffer from it live normal and productive
  lives, however there is a possibility NF1 is
  severely debilitating and has cosmetic and
  physiological repercussions
                 What is it?
• The difference between NF2 and NF1 is the
  fact that NF2 has slower-growing tumors
• To diagnose NF2 doctors would look at the
  eighth nerve tumors, development of
  cataracts at an early age, or other nervous
  system tumors and the relative growth of the
                 What is it?
• Schwannomatosis is characterized as being
  comprised of different cells than other tumors
• It is named for Theodor Schwann, a German
  physiologist who is best known for his theory that
  all animals consist of cells
• As these tumors cause pressure to neighboring
  nerves, a very common symptom in diagnosis is
  pain as the nerve develops and compresses
  nearby tissues
               What is it?
• With NF2 and schwannomatosis there is more
  danger as the cancer can grow to damage
  nearby tissues such as cranial or cardiac
  tissues which can have fatal corollaries in
  addition to great pain
• The disease is autosomal dominant, meaning
  that it affects both sexes equally
• It is not co-dominant so the only genotypes
  that correspond with the disorder are RR, Rr
  and rr, the homozygous recessive pair codes
  for not having the disorder
• NF1 has a frequency of 1 in 3,000 and NF2 has a
  frequency of 1 in 45,000 and Schwannomatosis
  has a frequency of 1 in 40,000
• If a parent has NF, there is a 50-100% chance that
  the child will inherit the trait
• There is no specific phenotype expression of the
  gene, as it varies between each case, however
  there is a similar correlation in the expression
  within the same family
Autosomal Dominant Inheritance Table
• Some NF1 tumors can become cancerous so
  the best and most immediate solution that is
  recommended is surgery to remove the
  tumors before they can mastasize or cause
  damage in another fashion
• As an alternative, other cancer treatment
  options are also viable, such as chemotherapy
  and radiation
• In addition to the methods described for the
  treatment of NF1, there are other treatment
  options for NF2
• For NF2, and MRI will show the appearance of
  the tumor and surgery is an option to remove
  tumors and correct cataracts and retinal
• So early recognition is paramount in
• There is no treatment currently available for
  Schwannomatosis but surgery is the best
• Genetic testing is also available for families
  with histories of NF1 and NF2, but currently
  there is no testing for Schwannomatosis
             Current Research
• The position of the gene that predisposes an
  individual for NF1 is located on chromosome 17
• the associated protein is called neurofibromin
  and is primarily located in nerve cells
• it is part of the regulation of cell division in
• Neurofibromin is a tumor suppressor gene whose
  function is to inhibit the p21 ras oncoprotein, so
  if mutated, tumors will not be suppressed, which
  is problematic
            Current Research
• The NF2 gene is located in chromosome 22
  and the product is a protein that is a tumor
  suppressant protein called merlin or
• Merlin apparently regulates growth in specific
  cells, Schwann cells and meningeal cells
             Current Research
• When researchers can figure out the exact 3D
  shape, something can be done in the production
  of a drug or through an application of gene
  therapy to remove, or repair the gene entirely
• Schwannomatosis is a product of a mutation on
  chromosome 22 and 17
• Researchers are also trying to determine more
  about what the protein Merlin controls within the
            Current Research
• In addition to the Merlin protein, researchers
  are trying to determine more about the
  protein neurofibromin and its association to
  other genes and disabilities
• If a child does not have abnormal skin spots,
  the goal in treatment is to prevent the
  development of neurofibromas, or tumors
            Current Research
• With regards to cancer research in preventing
  tumors from developing and growing, more
  efforts are being put into three categories
• Cytotoxics (cell poisons)
• Antihormonals (block hormone receptors)
• Adjuvants (drugs which supplement the
  performance of the main drug)
             Current Research
• As the Ras pathway is very intimately
  associated with NF, a lot of research is being
  put in to inhibit the biochemical pathway
• It is also important to figure out which Ras
  protein pathway is affected by NF
                            Works Cited
•   "Defining the Future of Neurofibromatosis Research." National Institute of
    Neurological Disorders and Stroke (NINDS). Web. 28 Feb. 2011.
•   "Neurofibromatosis Information Page." National Institute of Neurological Disorders
    and Stroke (NINDS). Web. 28 Feb. 2011.
•   "Neurofibromatosis." Wikipedia, the Free Encyclopedia. Web. 28 Feb. 2011.
•   "Schwann Cell." Wikipedia, the Free Encyclopedia. Web. 28 Feb. 2011.
•   "Schwannomatosis | Learn About NF." The Children's Tumor Foundation -
    Neurofibromatosis, NF, NF1, NF2, Schwannomatosis. Web. 28 Feb. 2011.
•   "Solubility Product Constants." Kemijsko-tehnološki Fakultet U Splitu. Web. 26 Feb.
    2011. <>.
                        Works Cited
• British Columbia Neurofibromatosis Foundation. Web. 27 Feb. 2011.
• Chambers, :. Diana. "Neurofibromatosis-1: Treatment | Health32.Com."
  Health32.Com | General Health Information Online. Web. 28 Feb. 2011.
• "Neurofibromatosis Type 1." Learn.Genetics™. Web. 28 Feb. 2011.
• "Figure 3 : Neurofibromatosis Type 1 [mdash] a Model for Nervous System
  Tumour Formation? : Nature Reviews Cancer." Nature Publishing Group :
  Science Journals, Jobs, and Information. Web. 28 Feb. 2011.
• British Columbia Neurofibromatosis Foundation. Web. 27 Feb. 2011.
• "KICK Neurofibromatosis Print from" Zazzle | Custom T-Shirts,
  Personalized Gifts, Posters, Art, and More. Web. 28 Feb. 2011.

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