Document Detail


Cardiolipin metabolism and Barth Syndrome.
MedLine Citation:
PMID:  16442164     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the mitochondria, particularly in the respiratory chain and is involved in the mitochondrial-mediated apoptotic process. The appropriate content of cardiolipin appears to be critical for these functions. Cardiolipin is synthesized de novo in mitochondria and is rapidly remodeled to produce CL enriched in linoleic acid. The Barth Syndrome gene TAZ has been identified and expression of the gene yields proteins known as tafazzins. Mutations in TAZ result in a decrease in tetra-linoleoyl species of cardiolipin and an accumulation of monolysocardiolipin within cells from Barth Syndrome patients. Although the protein product of the TAZ gene shows sequence homology to the glycerolipid acyltransferase family of enzymes, its precise biochemical function remains to be elucidated. In this review we highlight some of the recent literature on cardiolipin metabolism and Barth Syndrome.
Authors:
Kristin D Hauff; Grant M Hatch
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2006-01-18
Journal Detail:
Title:  Progress in lipid research     Volume:  45     ISSN:  0163-7827     ISO Abbreviation:  Prog. Lipid Res.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-22     Completed Date:  2006-09-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7900832     Medline TA:  Prog Lipid Res     Country:  England    
Other Details:
Languages:  eng     Pagination:  91-101     Citation Subset:  IM    
Affiliation:
Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Manitoba, 753 McDermot Avenue, Winnipeg, Manitoba, Canada R3E 0T6.
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MeSH Terms
Descriptor/Qualifier:
Cardiolipins / metabolism*
Cardiomyopathy, Dilated / genetics,  metabolism*
Genetic Diseases, X-Linked / genetics,  metabolism*
Genotype
Humans
Mutation
Phenotype
Proteins / genetics
Syndrome
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/Cardiolipins; 0/Proteins; 0/TAZ protein, human; 0/Transcription Factors

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