Article
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
Proceedings of the National Academy of Sciences of the United States of America - 8 May 2012
Ji Fuyun, Sharpley Mark S, Derbeneva Olga, Alves Leonardo Scherer, Qian Pin, Wang Yaoli, Chalkia Dimitra, Lvova Maria, Xu Jiancheng, Yao Wei, Simon Mariella, Platt Julia, Xu Shiqin, Angelin Alessia, Davila Antonio, Huang Taosheng, Wang Ping H, Chuang Lee-Ming, Moore Lorna G, Qian Guisheng, Wallace Douglas C
Abstract excerpt
The distinction between mild pathogenic mtDNA mutations and population polymorphisms can be ambiguous because both are homoplasmic, alter conserved functions, and correlate with disease. One possible explanation for this ambiguity is that the same variant may have different consequences in different contexts. The NADH dehydrogenase subunit 1 (ND1) nucleotide 3394 T > C (Y30H) variant is such a case. This variant...
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