Document Detail


Mitochondrial disorders as windows into an ancient organelle.
MedLine Citation:
PMID:  23151580     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Much of our current knowledge about mitochondria has come from studying patients who have respiratory chain disorders. These disorders comprise a large collection of individually rare syndromes, each presenting in a unique and often devastating way. In recent years, there has been great progress in defining their genetic basis, but we still know little about the cascade of events that gives rise to such diverse pathology. Here, we review these disorders and explore them in the context of a contemporary understanding of mitochondrial evolution, biochemistry and genetics. Fully deciphering their pathogenesis is a challenging next step that will inspire the development of drug treatments for rare and common diseases.
Authors:
Scott B Vafai; Vamsi K Mootha
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Nature     Volume:  491     ISSN:  1476-4687     ISO Abbreviation:  Nature     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0410462     Medline TA:  Nature     Country:  England    
Other Details:
Languages:  eng     Pagination:  374-83     Citation Subset:  IM    
Affiliation:
Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
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