Clinical mitochondrial genetics

J Med Genet. 1999 Jun;36(6):425-36.


The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich's ataxia,12 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the complex nuclear genetic disorders which directly cause mitochondrial dysfunction (table 1). However, in addition to the 3 billion base pair nuclear genome, each human cell typically contains thousands of copies of a small, 16.5 kb circular molecule of double stranded DNA (fig 1). Mitochondrial DNA (mtDNA) accounts for only 1% of the total cellular nucleic acid content. It encodes for 13 polypeptides which are essential for aerobic metabolism and defects of the mitochondrial genome are an important cause of human disease.9293 Since the characterisation of the first pathogenic mtDNA defects in 1988,513 over 50 point mutations and well over 100 rearrangements of the mitochondrial genome have been associated with human disease9495 ( These disorders form the focus of this article. Keywords: mitochondrial DNA; mitochondrial disease; heteroplasmy; genetic counselling

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics
  • Female
  • Genetics, Medical
  • Humans
  • Male
  • Mitochondria / genetics*
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / therapy
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis


  • DNA, Mitochondrial