Article
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
American journal of human genetics - 1 Jul 2006
Saxena Richa, de Bakker Paul I W, Singer Karyn, Mootha Vamsi, Burtt Noel, Hirschhorn Joel N, Gaudet Daniel, Isomaa Bo, Daly Mark J, Groop Leif, Ardlie Kristin G, Altshuler David
Abstract excerpt
Many lines of evidence implicate mitochondria in phenotypic variation: (a) rare mutations in mitochondrial proteins cause metabolic, neurological, and muscular disorders; (b) alterations in oxidative phosphorylation are characteristic of type 2 diabetes, Parkinson disease, Huntington disease, and other diseases; and (c) common missense variants in the mitochondrial genome (mtDNA) have been implicated as having...
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