Mitochondrial DNA mutations in human cancer

A. Chatterjee, E. Mambo, D. Sidransky

Research output: Contribution to journalReview articlepeer-review


Somatic mitochondrial DNA (mtDNA) mutations have been increasingly observed in primary human cancers. As each cell contains many mitochondria with multiple copies of mtDNA, it is possible that wild-type and mutant mtDNA can co-exist in a state called heteroplasmy. During cell division, mitochondria are randomly distributed to daughter cells. Over time, the proportion of the mutant mtDNA within the cell can vary and may drift toward predominantly mutant or wild type to achieve homoplasmy. Thus, the biological impact of a given mutation may vary, depending on the proportion of mutant mtDNAs carried by the cell. This effect contributes to the various phenotypes observed among family members carrying the same pathogenic mtDNA mutation. Most mutations occur in the coding sequences but few result in substantial amino acid changes raising questions as to their biological consequence. Studies reveal that mtDNA play a crucial role in the development of cancer but further work is required to establish the functional significance of specific mitochondrial mutations in cancer and disease progression. The origin of somatic mtDNA mutations in human cancer and their potential diagnostic and therapeutic implications in cancer are discussed. This review article provides a detailed summary of mtDNA mutations that have been reported in various types of cancer. Furthermore, this review offers some perspective as to the origin of these of mutations, their functional consequences in cancer development, and possible therapeutic implications.

Original languageEnglish (US)
Pages (from-to)4663-4674
Number of pages12
Issue number34
StatePublished - Aug 7 2006


  • Homoplasmy
  • Mitochondria
  • Molecular detection
  • Mutation
  • Reactive oxygen species (ROS)

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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