MELA A3243G mitochondrial DNA mutation and age related maculopathy

Purpoe To determine whether mitochondrial DNA mutation play a role in the development of age related maculopathy (ARM). Deign Cae report. Method Hair follicle were collected from 3557 peron aged 49 year or older during the Blue Mountain Eye tudy. General health meaure were aeed and a detailed eye examination wa performed, including tereo retinal photography of the macula, and other retinal field. ARM wa graded according to international claification. Polymerae chain reaction and retriction fragment length polymorphim analyi wa performed to detect the MELA A3243G mutation in 570 ubject identified to have ign of Early or Late ARM, a well a in age- and gender-matched control. Reult Only one participant with Early ARM, mild hearing lo, hypertenion, ichemic heart dieae, and athma wa found to have the MELA A3243G mutation. Concluion The MELA A3243G mutation appear to be a very rare caue of typical ARM in the general population.