Genetic causes of mitochondrial DNA depletion in humans

Biochim Biophys Acta. 2009 Dec;1792(12):1103-8. doi: 10.1016/j.bbadis.2009.06.009. Epub 2009 Jul 9.


Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Gene Deletion
  • Humans
  • Mitochondrial Diseases / genetics*


  • DNA, Mitochondrial