Journal
NATURE REVIEWS GENETICS
Volume 13, Issue 12, Pages 878-890Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3275
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Funding
- US National Institutes of Health [HD32062]
- US Department of Defense [W911NF-12-1-0159]
- Muscular Dystrophy Association
- Ellison Medical Foundation
- Alzheimer Drug Discovery Foundation
- Marriott Mitochondrial Disorder Clinical Research Fund
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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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