Mitochondrial DNA mutations in human degenerative diseases and aging

Biochim Biophys Acta. 1995 May 24;1271(1):141-51. doi: 10.1016/0925-4439(95)00021-u.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Aged
  • Aging / genetics*
  • Amino Acid Sequence
  • Animals
  • Biological Evolution*
  • Child
  • Conserved Sequence
  • DNA, Mitochondrial / genetics*
  • Energy Metabolism
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / metabolism*
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / metabolism
  • Molecular Sequence Data
  • Mutation*
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / metabolism
  • Oxidative Phosphorylation
  • Pedigree
  • Point Mutation*
  • Sequence Homology, Amino Acid


  • DNA, Mitochondrial