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Hutchinson-Gilford syndrome

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. 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. more...

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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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The Hutchinson-Gilford progeria syndrome (The journal of pediatrics)

The Biological Basis of Hutchinson-Gilford Syndrome : Relationship to Mutagens in the Lamin A/C Gene and to Other Known Laminopathies - HGS - LMNA - Fellowships,
This PA is a new initiative to support research to understand how mutations in the gene for lamin A/C affect nuclear structure, thus leading to bothdysfunction ...
Mutation causes early-aging syndrome - Genetic Clue to Aging? - Hutchinson-Gilford progeria syndrome
Why does the human body deteriorate as a person ages? Two research teams have found a new clue to this longstanding mystery. Both groups have identified ...
New Mouse Model Will Aid Research on Premature Aging Syndrome Researchers from the National Cancer Institute (NCI) have developed a mouse model of the
Currently, there is no treatment for progeria, and children with the rare condition usually die of heart disease in their early teens. Although normal ...
Chip Foose: humble genius
SCENE 1 After speaking at Detroit's Cobo Hall during the North American International Auto Show, Chip Foose seems genuinely taken with the evident ...
role of telomeres in ageing and cancer, The
Abstract: Telomeres are regions of DNA that cap the ends of linear chromosomes. In somatic cells the telomeres shorten progressively with every cell division, ...
The premature ageing syndromes: insights into the ageing process - United Kingdom
Both genetic and environmental factors contribute to signs and symptoms of aging in humans. Various theories on the interacting factors exist. Premature ...
Gene found for rapid aging in children
WASHINGTON -- A rare disorder that turns children into old people and often causes them to die in their teens has been linked to a single genetic mutation, ...
Gene found for disorder that ages kids early
WASHINGTON -- A rare disorder that turns children into old people and often causes them to die in their teens has been linked to a single genetic mutation, ...

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