title: Human mitochondrial DNA: roles of inherited and somatic mutations.
abstract: Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA. eas3@columbia.edu
authors.forename: Eric A
authors.initials: EA
authors.lastname: Schon
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000375:Aging / Q000235:genetics / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D004579:Electron Transport; D054629:Genome, Mitochondrial; D018095:Germ-Line Mutation; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics / Q000378:metabolism; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism; D010085:Oxidative Phosphorylation
chemical_list: D004272:DNA, Mitochondrial