Progeria By: Haley Price
L5
QuickTime™ a nd a
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are need ed to see this picture.
Overview of Progeria:
Progeria is a rare genetic condition that has
almost nothing to do with heredity, has no cure,
and it is very hard for the child to do much.
• A rare, fatal genetic Effects:
condition
• Dwarfism with
• Caused by a mutation in the wrinkled/aged looking skin,
gene called LMNA, which delayed tooth formation, and
produces protein that holds stiffness of joints.
the nucleus of a cell together
• Born looking healthy
• Usually die of heart disease
• Begin to display many
or a stroke
characteristics of accelerated
aging at around 18-24
months of age
Heredity:
• Most children who get the disease
have had no relatives with it
• Can effect children who receive
only one altered gene
• Affects between 1 in 4 million
(estimated actual) and 1 in 8 million
(reported) children
Medical:
First noticed after 18
months of age
• Signs include growth failure,
Qui ckTi me™ and a
loss of body fat and hair, TIFF (Uncompresse d) d eco mpressor
are ne eded to see this pi cture.
aged-looking skin, stiffness of
joints, hip dislocation,
generalized atherosclerosis,
cardiovascular (heart) disease
and stroke
• Lives until about 13 years and www.pathguy.com
there is no cure yet
http://www.genome.gov/15515061
Personal:
•Premature aging, growth stops at about 3 years old, mental
retardation, balding, beaked nose
• Limited range of motion
• No cure yet
QuickTime™ and a
TIFF (Uncompressed) decompressor
are needed to see this picture.
http://www.burtonreport.com/%20images/Progeria.jpg
Pictures of Progeria
QuickTime™ and a
TIFF (Uncompressed) decompressor QuickTime™ and a
are needed to see this picture. TIFF (Uncompressed) decompressor
are needed to see this picture.
QuickTime™ and a
TIFF (Uncompressed) decompressor
are needed to see this picture.
http://newsimg.bbc.co.uk/media/images/41340000/jpg/_41340110_hayley_oki
nes203.jpg
QuickTime™ and a
TIFF (Uncompressed) decompressor
are needed to see this picture.
http://www.progeriaresearch.org/about_progeria.html
Even though there is no cure for
Progeria now, much is being done
to find one and for the sake of the
kids with Progeria hopefully one will
be found soon!
Progeria References:
• http://www.progeriaresearch.org/about_progeria.html
• http://www.hgps.net/
• http://www.healthline.com/adamcontent/progeria
• http://www.americanpregnancy.org/birthdefects/progeria.htm
• http://www.angelfire.com/scifi2/mchsbio2/