Magazine article Science News

Mutation Causes Early-Aging Syndrome. (Genetic Clue to Aging?)

Magazine article Science News

Mutation Causes Early-Aging Syndrome. (Genetic Clue to Aging?)

Article excerpt

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 a mutation that causes children to suffer a form of accelerated aging that usually results in death in their teens from heart attack, stroke, or other problems more typically associated with elderly people.

While investigators continue to debate exactly how well this so-called Hutchinson-Gilford progeria syndrome mirrors normal aging, many are convinced that the newly discovered mutation could provide insight into the process.

This finding "will help scientists across the globe to explore the fundamental mechanisms that drive human aging. We hope this will also lead to treatment and an eventual cure for progeria," says Leslie Gordon of Tufts University School of Medicine in Boston.

Hutchinson-Gilford progeria syndrome, also known simply as progeria--Greek for early aging--affects only an estimated 1 in 4 million children. "It's been a very difficult disease to get a handle on. There's no more than 100 case reports in the literature," says W. Ted Brown of New York State Institute for Basic Research in Developmental Disabilities in Staten Island.

Children with progeria are usually diagnosed 6 months to a year after birth, when their physical development starts to lag. They rarely grow taller than 4 feet, and their heads are oversized for their bodies. The children become bald and have skin problems such as scleroderma. While their mental development is normal, children with progeria rapidly develop atherosclerosis and die, on average, at the age of 13.

In a report to appear in an upcoming Science, Nicolas Levy of Hopital de la Timone in Marseille, France, and his colleagues identify a subtle but identical mutation in two kids with progeria. The defect is in a gene that encodes two proteins called lamin A and lamin C. …

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