Mitochondrial encephalomyopathies: clinical and molecular analysis

J Bioenerg Biomembr. 1994 Jun;26(3):291-9. doi: 10.1007/BF00763100.

Abstract

The classification of mitochondrial encephalomyopathies relied upon clinical, biochemical, and histological features until the discovery of mitochondrial DNA defects in 1988. Since then, an outburst of molecular genetic information has aided our understanding of the pathogenesis and the classification of these heterogeneous disorders. Novel concepts of maternal inheritance, mitochondrial DNA (mtDNA) heteroplasmy, tissue distribution, and threshold have explained many of the clinical characteristics. The discovery of point mutations, large-scale mtDNA deletions, duplications, and autosomally inherited disorders with multiple mtDNA deletions have revealed new genetic phenomena. Despite our rapidly expanding understanding of the molecular genetic defects, many questions remain to be explored to fill the gap in our knowledge of the relationship between genotype and clinical phenotype.

Publication types

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

MeSH terms

  • DNA, Mitochondrial / analysis*
  • DNA, Mitochondrial / genetics*
  • Electron Transport / genetics
  • Gene Deletion
  • Genotype
  • Humans
  • Mitochondria / metabolism
  • Mitochondria / ultrastructure
  • Mitochondrial Encephalomyopathies / classification
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / metabolism
  • Mutation
  • Oxidative Phosphorylation
  • Phenotype

Substances

  • DNA, Mitochondrial