Human mitochondrial DNA: roles of inherited and somatic mutations

EA Schon, S DiMauro, M Hirano - Nature Reviews Genetics, 2012 - nature.com
EA Schon, S DiMauro, M Hirano
Nature Reviews Genetics, 2012nature.com
Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with
defects in oxidative energy metabolism. It is now emerging that somatic mutations in
mitochondrial DNA (mtDNA) are also linked to other complex traits, including
neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of
mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic …
Abstract
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
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