title: Mitochondrial DNA mutations in neurodegeneration.
abstract: Mitochondrial dysfunction is observed in both the aging brain, and as a core feature of several neurodegenerative diseases. A central mechanism mediating this dysfunction is acquired molecular damage to mitochondrial DNA (mtDNA). In addition, inherited stable mtDNA variation (mitochondrial haplogroups), and inherited low level variants (heteroplasmy) have also been associated with the development of neurodegenerative disease and premature neural aging respectively. Herein we review the evidence for both inherited and acquired mtDNA mutations contributing to neural aging and neurodegenerative disease. This article is part of a Special Issue entitled: Mitochondrial Dysfunction in Aging.
authors.affiliation: Institute of Genetic Medicine, Centre for Life, Newcastle University, NE1 3BZ, UK.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Keogh
authors.affiliation: Institute of Genetic Medicine, Centre for Life, Newcastle University, NE1 3BZ, UK. Electronic address: p.f.chinnery@ncl.ac.uk.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000255:Adenosine Triphosphate / Q000096:biosynthesis; D000544:Alzheimer Disease / Q000235:genetics; D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics*; D020521:Stroke / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate
keywords: Aging; Alzheimer disease; DNA; Lewy body disease; Mitochondrial; Parkinson disease