The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Trends Genet. 2000 Nov;16(11):500-5. doi: 10.1016/s0168-9525(00)02120-x.


The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are usually heteroplasmic, with a mixture of mutant and wild-type mtDNA within the same organism. A woman harbouring one of these mutations transmits a variable amount of mutant mtDNA to each offspring. This can result in a healthy child or an infant with a devastating and fatal neurological disorder. Understanding the biological basis of this uncertainty is one of the principal challenges facing scientists and clinicians in the field of mitochondrial genetics.

Publication types

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

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Frequency*
  • Humans
  • Mice
  • Mutation
  • Polymorphism, Genetic
  • Selection, Genetic*
  • Species Specificity


  • DNA, Mitochondrial