Mitochondrial genetics and disease

Trends Biochem Sci. 2000 Nov;25(11):555-60. doi: 10.1016/s0968-0004(00)01688-1.


Mitochondrial respiratory chain diseases are a highly diverse group of disorders whose main unifying characteristic is the impairment of mitochondrial function. As befits an organelle containing gene products encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA), these diseases can be caused by inherited errors in either genome, but a surprising number are sporadic, and a few are even caused by environmental factors.

Publication types

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

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Cell Respiration / genetics
  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / metabolism*
  • Mitochondrial Myopathies / pathology
  • Mutation*
  • Protein Biosynthesis
  • Proteins / genetics


  • DNA, Mitochondrial
  • Proteins
  • Adenosine Triphosphate