Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration.

doi:10.1371/journal.pone.0005508

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Article

Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration.

PloS one - 1 Jan 2009

SanGiovanni John Paul, Arking Dan E, Iyengar Sudha K, Elashoff Michael, Clemons Traci E, Reed George F, Henning Alice K, Sivakumaran Theru A, Xu Xuming, DeWan Andrew, Agrón Elvira, Rochtchina Elena, Sue Carolyn M, Wang Jie Jin, Mitchell Paul, Hoh Josephine, Francis Peter J, Klein Michael L, Chew Emily Y, Chakravarti Aravinda

Abstract excerpt

BACKGROUND: Age-related macular degeneration (AMD), a chronic neurodegenerative and neovascular retinal disease, is the leading cause of blindness in elderly people of western European origin. While structural and functional alterations in mitochondria (mt) and their metabolites have been implicated in the pathogenesis of chronic neurodegenerative and vascular diseases, the relationship of inherited variants in...

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PMID: 19434233
DOI: 10.1371/journal.pone.0005508
PMCID: PMC2677106

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