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Transcript of Progeria
Chromosome Number & Locus
Growth failure during the first year of life
Narrow, shrunken or wrinkled face
Loss of eyebrows and eyelashes
Large head for size of face (macrocephaly)
Open soft spot (fontanelle)
Small jaw (micrognathia)
Dry, scaly, thin skin
Limited range of motion
Teeth - delayed or absent formation
Moniter cardivascular disease
low daily dose aspirin - prevent heart attacks and strokes
physical therapy - hep child remain active
There are no specific populations affected by Progeria.
There are only 100 reported cases in the world.
• Average Life expediency is 13 years, the oldest case reported was 21 years old
• Patients die from heart disease or stroke
On Chromosome 1
FTIs shown promise in correcting cell defects
Farnesyltransferase Inhibitors developed for treating cancer
Mutation in LMNA gene (produces lamin A protein)
protein holds cell nucleus together
mutated cell nucleus unstable - leads to premature aging
mutation is usually sporadic
during the cell division in newly conceived zygote or in the gametes of one of the parents.
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