Progeria
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Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. It is an autosomal recessive condition that affects around 1 in 4-8 million newborns. Currently, there are approximately 35 known cases in the world with no known cure. Most children with the disease die around 13 years of age.
According to recent evidence, Progeria may be a recessive inheritable trait. It develops during cell division in a newly conceived child. It is on the LMNA (Lamin A protein) gene on chromosome 1.
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.
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 unaffected. Individuals with the condition rarely live more than 16 years; the longest recorded life-span is 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.
References in common culture
- The movie Blade Runner featured a character named Sebastian who appears to suffer from Progeria, which he refers to as "Methuselah Syndrome".
- 1996 movie Jack features Robin Williams as a boy with an aging disorder. Unlike Progeria, however, there are very few symptoms other than rapid aging.
See also
Compare: Werner syndrome
External links
- Progeria Research Foundation (http://www.progeriaresearch.org/)
- "Family tormented by ageing disease" (http://news.bbc.co.uk/2/hi/south_asia/4286347.stm) – BBC News article on a family with Progeria; cites study that progeria is inheritable.
- Hutchinson-Gilford Progeria syndrome Network (http://www.hgps.net)
- Media (http://www.hgps.net/media/) – a list of references in common culturede:Progerie