Ontology highlight
ABSTRACT:
SUBMITTER: Ji F
PROVIDER: S-EPMC3358837 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Ji Fuyun F Sharpley Mark S MS Derbeneva Olga O Alves Leonardo Scherer LS Qian Pin P Wang Yaoli Y Chalkia Dimitra D Lvova Maria M Xu Jiancheng J Yao Wei W Simon Mariella M Platt Julia J Xu Shiqin S Angelin Alessia A Davila Antonio A Huang Taosheng T Wang Ping H PH Chuang Lee-Ming LM Moore Lorna G LG Qian Guisheng G Wallace Douglas C DC
Proceedings of the National Academy of Sciences of the United States of America 20120418 19
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 has been associated with Leber hereditary optic neuropathy and it reduces complex I ...[more]