Format

Send to

Choose Destination
Nat Rev Genet. 2012 Dec;13(12):878-90. doi: 10.1038/nrg3275.

Human mitochondrial DNA: roles of inherited and somatic mutations.

Author information

1
Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA. eas3@columbia.edu

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.

PMID:
23154810
PMCID:
PMC3959762
DOI:
10.1038/nrg3275
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center