Monday 14 October 2013

PROGERIA


This genetic disorder is as rare as it is severe. The classic form of the disease, called Hutchinson-Gilford Progeria, causes accelerated aging.

Most children who have progeria essentially die of age-related diseases around the age of 13, but some can live into their 20s. Death is typically caused by a heart attack or stroke. It affects as few as one per eight million live births.

The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus. Other symptoms of progeria include rigid (sclerotic) skin, full body baldness (alopecia), bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip.
Progeria is of great interest to gerontologists who hope connect genetic factors to the aging process. Image: HBO.

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