PLoS ONE findings offer additional evidence for role of oxidative stress in the disease.
Researchers identified a genetic variation in mitochondria DNA that contributes to a person’s risk of developing age-related macular degeneration (AMD). The genetic change called mitochondrial haplogroup T occurs in about 10% of Caucasians.
The study examined variation in nuclear genes CFH, LOC387715, and ApoE, which are know to be associated with AMD. Mitochondrial mutations in 280 cases and 280 age-matched controls were also evaluated. The scientists demonstrated that the mitochondrial genome variation A4917G was independent of the known nuclear factors.
“By identifying genetic changes associated with the mitochondria, our results lend additional confirmatory evidence for the role of oxidative stress in AMD,” says Paul Sternberg, M.D., one of the authors and G.W. Hale professor and chairman of the Vanderbilt Eye Institute.
The research was conducted by investigators at Duke University Medical Center, Miller School of Medicine, and Vanderbilt University Medical Center. The study is published May 7 in PLoS ONE.
