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Biomed Rep. 2016 Mar;4(3):259-262. Epub 2016 Feb 4.

Mitochondrial DNA heteroplasmy in human health and disease.

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MitoGenetics, LLC, Farmingdale, NY 11735, USA.


The biomedical literature has extensively documented the functional roles of genetic polymorphisms in concert with well-characterized somatic mutations in the etiology and progression of major metastatic diseases afflicting human populations. Mitochondrial heteroplasmy exists as a dynamically determined co-expression of inherited polymorphisms and somatic mutations in varying ratios within individual mitochondrial DNA genomes with repetitive patterns of tissue specificity. Mechanistically, carcinogenic cellular processes include profound alterations of normative mitochondrial function, notably dependence on aerobic and anaerobic glycolysis, and aberrant production and release of lactate, according to a classic theory. Within the translational context of human health and disease, the present review discusses the necessity of establishing critical foci designed to probe multiple biological roles of mitochondrial heteroplasmy in cancer biology.


bioenergetics; mitochondria; mitochondrial DNA; mitochondrial DNA heteroplasmy; somatic mutation

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