Progeria is a congenital disorder that causes the sufferer seemingly to age very rapidly. The term may 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 doctors Jonathan Hutchinson and Hastings Gilford.
A very rare disease, progeria affects somewhere from 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 brief life expectancy and rarely live beyond 16. The oldest patient on record 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 misshapen cell nucleus. Progeria is currently hypothesized to result from a gene mutation arising around the time of conception or shortly thereafter. The mechanism by which the misshapen nucleus leads to accelerated aging symptoms is not currently known.
A child with progeria will begin showing symptoms around 18 to 24 months after birth. The condition causes sufferers to look prematurely old, with hair loss, wrinkled skin, and frail bone structure. Teeth are often slow to appear and may not appear at all. Children also experience limited growth and have characteristically 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 those with the disorder. Interestingly, certain conditions common among the elderly, such as cancer and Alzheimer's, are not symptoms of progeria.
The Progeria Research Foundation is a non-profit organization in the United States devoted 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 the suffering and increasing the lifespan of affected children. In addition, defects in Lamin A may be responsible for normal aging as well as for the accelerated aging symptoms.
