Mitochondrial DNA mutations and pathogenesis

J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755.


Approximately there years ago, this journal published a review on the clinical and molecular analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial DNA (mtDNA). At the time, approximately 30 point mutations associated with a variety of maternally-inherited (or rarely, sporadic) disorders had been described. Since that time, almost twenty new pathogenic mtDNA point mutations have been described, and the pace of discovery of such mutations shows no signs of abating. This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis.

Publication types

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

MeSH terms

  • Cardiomyopathies / genetics
  • DNA, Mitochondrial / genetics*
  • Deafness / genetics
  • Diabetes Mellitus / genetics
  • Gene Rearrangement
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / physiopathology
  • Humans
  • MELAS Syndrome / genetics
  • MERRF Syndrome / genetics
  • Mutation*
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Optic Atrophies, Hereditary / genetics


  • DNA, Mitochondrial