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PROGERIA (extremely rare genetic disease of childhood characterized by…
PROGERIA
extremely rare genetic disease of childhood characterized by dramatic, premature aging
within a year their growth rate slows and they soon are much shorter and weigh much less than others their age
affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size
stiffness of joints
hip dislocation
severe, progressive cardiovascular disease
Research
is caused by a tiny, point mutation in a single gene, known as lamin A
nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene
research has found that the mutation responsible for progeria causes the LMNA gene to produce and abnormal form of the Lamin A protein
the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans' normal aging process
Statistics
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death occurs on average at age 13, usually from heart attack or stroke
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