Genetics and Health

PLEKHA1 and CFH: Genes for Age-Related Maculopathy

by Hsien Hsien Lei, PhD on August 16th, 2005

Age-related maculopathy (ARM), also known as macular degeneration, is the leading cause of untreatable blindness in the elderly, affecting an estimated 200,000 Americans each year. Two genes have been identified which are strongly associated with ARM - PLEKHA1 and complement factor H (CFH) on chromosome 1. (EurekAlert, August 16, 2005)

Having one or the other of the mutations in the PLEKHA1 and CFH genes increases risk of ARM. Having mutations in both genes increases the risk of macular degernation even more. The genes are believed to play a part in the inflammatory pathway which supports previous hypotheses that ARM is caused, in part, by inflammation.

Researchers hope that studying the genes for ARM will lead to a better understanding of the biological pathway that leads to macular degeneration. In the future, genetic testing may also identify people who are at greatest risk of ARM and help define preventive strategies, such as changes in diet, that will reduce their chances of developing the disease or slow the progression to blindness.

For more information on ARM, see the website of Optometrists Association Australia.

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POSTED IN: Genetics of Disease