Progeria

Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. The disease affects around 100 in 48 million newborns. Currently, there are approximately 35 known cases in the world. There is no known cure. more...

Most people with progeria die around 13 years of age. Progeria is of interest to scientists because the disease may reveal clues about factors involved in the process of aging, because it is an "accelerated aging" disease. But unlike most other "accelerated aging diseases" (like Werner's syndrome), progeria is not caused by defective DNA repair.

The condition was first identified in 1886 by Jonathan Hutchinson and Hastings Gilford. The condition was later named Hutchinson-Gilford Progeria syndrome; the name was derived from the Greek for "prematurely old". Around 100 cases have been definitely identified since then.

Cause

According to 'recent evidence, Progeria may be a de novo dominant trait. It develops during cell division in a newly conceived child or in the gametes of one of the parents. It is caused by mutations in a LMNA (Lamin A' protein) gene on chromosome 1.

Symptoms

Symptoms generally begin appearing around 18-24 months of age. The condition is distinguished by limited growth, alopecia and a characteristic appearance with small face and jaw and pinched nose. Later the condition causes wrinkled skin, atherosclerosis and cardiovascular problems. Mental development is affected. Individuals with the condition rarely live more than 16 years; the longest recorded life-span was 26 years. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur.

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