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Results from a genome-wide study involving 18,000 people are helping researchers better understand who might be at risk of age-related macular degeneration (AMD), as well as how the disease causes vision loss in 10 million Americans. A research team led by the National Eye Institute (NEI) and funded in-part by the Foundation Fighting Blindness Grant Center at the University of Michigan has identified three new genetic regions that appear to increase the risk of age-related macular degeneration. Investigators note that two of the regions are linked to the transport of cholesterol. Another AMD-associated regions is near the gene TIMP3, which causes Sorsby fundus dystrophy, an early-onset macular disease. Anand Swaroop, Ph.D., chief of the NEI Neurobiology-Neurodegeneration and Repair Laboratory, and the study’s lead investigator (previously at the University of Michigan), says that age-related macular degeneration begins with the accumulation of drusen in the retina. Drusen are deposits comprised of a number of proteins and fats including cholesterol. The build-up of drusen causes vision loss in the dry form of AMD. It also puts people at risk for developing wet AMD, a more severe form of the disease characterized by the proliferation of leaky blood vessels underneath the retina. Dr. Swaroop cautions that cholesterol’s association with AMD is still not well understood, and blood cholesterol levels do not accurately reflect AMD risk, but his team’s findings may provide targets for further investigation and potential treatments for AMD. “Age-related macular degeneration is a complex disease caused by multiple genetic and environmental factors,” says Stephen Rose, chief research officer, Foundation Fighting Blindness. “This NEI-University of Michigan led collaboration has given us new, valuable information that moves us closer to vision-saving treatments.” Dr. Rose notes that many of the study’s 67 investigators are funded by the Foundation Fighting Blindness. He adds, “I am delighted to see the retinal research community working together so effectively. Strong collaboration is essential to moving the research forward.” |
