Gene Linked to Age-Related Blindness

The discovery could aid in prevention and early diagnosis

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MONDAY, Aug. 22, 2005 (HealthDay News) -- A variation in a single gene is strongly associated with an increased risk of age-related macular degeneration (AMD), the leading cause of untreatable blindness in the elderly, according to a new study.

Based on the finding, a simple test might be developed that could help identify people at risk for this condition, speculate researchers at the University of Pittsburgh. They believe that identification of the PLEKHA1 gene may also help researchers find more effective ways to prevent this ocular degeneration.

In the September issue of the American Journal of Human Genetics, the researchers report that PLEKHA1 is involved in the cellular processes related to inflammation. This finding supports the hypothesis that inflammation plays a role in the damage caused by AMD.

The University of Pittsburgh team made the link between a variation of PLEKHA1 and AMD after they mapped the genes of 612 families affected by AMD and 323 people with no family history of the condition. Among people with AMD, the researchers identified multiple locations on the chromosomes where there are common gene variants.

They were especially focused on a region on chromosome 10. After further analysis, the investigators concluded that a variation of PLEKHA1 is strongly associated with a person's risk of developing the degenerative eye disease.

More information

The U.S. National Eye Institute has more about age-related macular degeneration.

SOURCE: University of Pittsburgh Medical Center, news release, Aug 16, 2005


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