title: Mitochondrial DNA mutations in human degenerative diseases and aging.
abstract: A wide variety of mitochondrial DNA (mtDNA) mutations have recently been identified in degenerative diseases of the brain, heart, skeletal muscle, kidney and endocrine system. Generally, individuals inheriting these mitochondrial diseases are relatively normal in early life, develop symptoms during childhood, mid-life, or old age depending on the severity of the maternally-inherited mtDNA mutation; and then undergo a progressive decline. These novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.
authors.affiliation: Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
authors.forename: D C
authors.initials: DC
authors.lastname: Wallace
authors.forename: J M
authors.initials: JM
authors.lastname: Shoffner
authors.forename: I
authors.initials: I
authors.lastname: Trounce
authors.forename: M D
authors.initials: MD
authors.lastname: Brown
authors.forename: S W
authors.initials: SW
authors.lastname: Ballinger
authors.forename: M
authors.initials: M
authors.lastname: Corral-Debrinski
authors.forename: T
authors.initials: T
authors.lastname: Horton
authors.forename: A S
authors.initials: AS
authors.lastname: Jun
authors.forename: M T
authors.initials: MT
authors.lastname: Lott
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D005075:Biological Evolution; D002648:Child; D017124:Conserved Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D004734:Energy Metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism*; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000378:metabolism; D010085:Oxidative Phosphorylation; D010375:Pedigree; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: D004272:DNA, Mitochondrial