Gene Behind Premature Aging Syndrome Found

Provides starting point for screening and treatment, researchers say

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WEDNESDAY, April 16, 2003 (HealthDayNews) -- French researchers have found the gene responsible for the premature aging syndrome called Hutchinson-Gilford Progeria, a disease that causes young victims to age five to 10 times faster than normal.

Identifying the gene provides scientists with a critical starting point for finding ways to treat the disease and to screen people for the defective gene. The study appears in the April 17 issue of Science.

The French scientists pinpointed a mutation on the LMNA gene, which contains information for constructing two proteins, called Lamin A and Lamin C. The mutation results in abnormal Lamin A production in some cells.

Cells with defective lamin proteins divide improperly and die prematurely. That impairs tissues' ability to regenerate.

Hutchinson-Gilford Progeria Syndrome (HGPS) is extremely rare. It affects 1 child in about 4 million to 8 million children. It causes aged-looking skin, baldness, dwarfism and a small face and jaw relative to head size. Mental development is not affected.

Children with the disease often have health problems typically associated with the elderly, such as hip dislocations, joint stiffness, cardiovascular problems and atherosclerosis. Children with HGPS die at the average age of 13.

More information

Here's where you can learn more about Hutchinson-Gilford Progeria Syndrome.

SOURCE: American Association for the Advancement of Science, news release, April 16, 2003


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