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Progeria is a rare congenital disease that causes rapid aging, affecting one in four to eight million children. It is caused by a mutation in the protein Lamin A and has no known cure. Symptoms include hair loss, wrinkled skin, and cardiovascular problems. The Progeria Research Foundation is dedicated to finding a cure.
Progeria is a congenital disease that makes the sufferer appear to age very rapidly. The term can be used to refer to any disease with symptoms resembling an accelerated aging process, but in a more limited sense it designates Hutchinson-Gilford Progeria syndrome. It was first described in England in the late 19th century by physicians Jonathan Hutchinson and Hastings Gilford.
A very rare disease, progeria affects one in four million to one in eight million children and there is currently no known cure. It affects children of both sexes and all ethnic groups. Sufferers have a very short life expectancy and rarely live beyond the age of 16. The oldest patient registered with this disease was 29 years old.
While other “accelerated aging” disorders are caused by a malfunction in deoxyribonucleic acid (DNA) repair in the body’s cells, progeria is caused by a mutation in a protein known as Lamin A, which results in a cell nucleus deformed. It is currently assumed that progeria results from a genetic mutation that occurs around the time of conception or shortly thereafter. The mechanism by which the misshapen core leads to accelerated aging symptoms is not currently known.
A baby with progeria will start showing symptoms around 18 to 24 months after birth. The condition makes sufferers look prematurely old, with hair loss, wrinkled skin, and brittle bone structure. Teeth are often slow to appear and may not appear at all. Children also experience limited growth and typically have small faces with pinched features.
Progeria also causes medical problems typically associated with the elderly, mostly cardiovascular in nature. Heart attack or stroke is the leading cause of death for sufferers. Interestingly, some conditions common among older adults, such as cancer and Alzheimer’s, are not symptoms of progeria.
The Progeria Research Foundation is a non-profit organization in the United States dedicated to discovering a cure for this disorder. Since heart disease is a leading cause of death worldwide, developing a cure for progeria may have applications beyond ending suffering and increasing the lifespan of affected children. Additionally, lamina A defects may be responsible for normal aging and accelerated aging symptoms.
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