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Mitochondrial Heteroplasmy and Disease

  1. Joanna L Elson,
  2. Robert N Lightowlers

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006079



How to Cite

Elson, J. L. and Lightowlers, R. N. 2006. Mitochondrial Heteroplasmy and Disease. eLS. .

Author Information

  1. University of Newcastle upon Tyne, Newcastle upon Tyne, UK

Publication History

  1. Published Online: 27 JAN 2006


In addition to the nuclear genome, most eukaryotic cells also have multiple copies of a small circular genome located within the mitochondrion (mtDNA), the presence of which is critical for cellular respiration. All the mtDNA within the cells of young individuals is usually thought to be identical, a condition known as homoplasmy. An alternative situation is heteroplasmy, where there are two or more mtDNA types present within the cells of a single individual.


  • mitochondrial deoxyribonucleic acid;
  • heteroplasmy;
  • threshold effect;
  • cytoplast transfer;
  • random genetic drift