Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues | Proceedings of the National Academy of Sciences thumbnail
Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues | Proceedings of the National Academy of Sciences
www.pnas.org
ability of somatic mtDNA mutations to expand (required for their phenotypic expression), as well as their apparently high incidence, reinforces the possibility that these mutations may be involved actively in various physiological processes such as aging and degenerative disease high proportion of c
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  • ability of somatic mtDNA mutations to expand (required for their phenotypic expression), as well as their apparently high incidence, reinforces the possibility that these mutations may be involved actively in various physiological processes such as aging and degenerative disease
  • high proportion of cells in tissues as diverse as buccal epithelium and heart muscle contain high proportions of clonal mutant mtDNA expanded from single initial mutant mtDNA molecules
  • intracellular clonal expansion of somatic point mutations is a common event in normal human tissues
  • recently discovered accumulation of mtDNA mutations in tumors may be explained by processes that are similar or identical to those operating in the normal tissue

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