Gene: Vision Loss

Source: 3 Studies Link Variant Gene to Risk of Severe Vision Loss, 11-03-2005

Scientists say they have identified a genetic variation that substantially raises the risk of age-related macular degeneration, the leading cause of severe vision loss in the elderly.

The authors of the studies said the disease was more frequent among whites. Dr. Edwards‘s study was done by scientists at the University of Texas Southwestern Medical Center in Dallas, Boston University and Sequenom, a biotechnology company in San Diego. Dr. Edwards has since left the University of Texas to start the Institute for Retina Research at Presbyterian Hospital of Dallas.

The study led by Dr. Pericak-Vance was at Duke and Vanderbilt. The third was led by Dr. Josephine Hoh at Yale and included researchers from the National Eye Institute and the Rockefeller University.

The genetic finding adds strong confirmation to accumulating evidence that macular degeneration, much like atherosclerosis, is at least partly caused by inflammation.

All three studies pinpointed a single change in a letter of the genetic code in a gene that contains the code for a protein involved in the complement system, part of the body’s immune response to invading pathogens. The change in the DNA letter led to a change of a single amino acid in the protein, complement factor H. Complement factor H acts as a brake on the immune response and inflammation. The variant form of the protein may be a less effective brake.

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