Document Detail


Human mitochondrial DNA: roles of inherited and somatic mutations.
MedLine Citation:
PMID:  23154810     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Eric A Schon; Salvatore DiMauro; Michio Hirano
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review    
Journal Detail:
Title:  Nature reviews. Genetics     Volume:  13     ISSN:  1471-0064     ISO Abbreviation:  Nat. Rev. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-16     Completed Date:  2013-01-17     Revised Date:  2014-03-26    
Medline Journal Info:
Nlm Unique ID:  100962779     Medline TA:  Nat Rev Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  878-90     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aging / genetics,  metabolism
DNA, Mitochondrial / genetics*,  metabolism
Electron Transport
Genome, Mitochondrial
Germ-Line Mutation
Heredodegenerative Disorders, Nervous System / genetics,  metabolism
Humans
Mitochondrial Diseases / genetics,  metabolism
Models, Biological
Models, Genetic
Mutation*
Neoplasms / genetics,  metabolism
Oxidative Phosphorylation
Grant Support
ID/Acronym/Agency:
HD32062/HD/NICHD NIH HHS; P01 HD032062/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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