| Characterization of lymphoblast mitochondria from patients with Barth syndrome. | |
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MedLine Citation:
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PMID: 15806137 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Barth syndrome (BTHS) is a multisystem disorder of individuals who carry mutations in tafazzin, a putative phospholipid acyltransferase. We investigated the hypothesis that BTHS is caused by specific impairment of the mitochondrial lipid metabolism. The fatty acid composition of all major mitochondrial phospholipids, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and cardiolipin (CL), changed in lymphoblasts from BTHS patients. These changes were most extensive in CL and least extensive in PE. The complementary nature of the fatty acid alterations in CL and PC suggested that fatty acid transfer between these two lipids was inhibited in BTHS. Fluorescence staining and electron microscopy showed abnormal proliferation of mitochondria in BTHS lymphoblasts. The mitochondrial membrane potential, monitored with the fluorescence probe JC-1, was reduced in BTHS lymphoblasts. However, mitochondrial ATP formation of permeabilized lymphoblasts remained unaffected in BTHS. The data suggest that phospholipid abnormalities of BTHS mitochondria led to partial uncoupling of oxidative phosphorylation and that lymphoblasts compensated for this deficiency by expanding the mitochondrial compartment. |
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Authors:
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Yang Xu; John J Sutachan; Heide Plesken; Richard I Kelley; Michael Schlame |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Laboratory investigation; a journal of technical methods and pathology Volume: 85 ISSN: 0023-6837 ISO Abbreviation: Lab. Invest. Publication Date: 2005 Jun |
Date Detail:
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Created Date: 2005-05-23 Completed Date: 2005-09-30 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0376617 Medline TA: Lab Invest Country: United States |
Other Details:
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Languages: eng Pagination: 823-30 Citation Subset: IM |
Affiliation:
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Department of Anesthesiology, New York University School of Medicine, New York, NY 10016, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cardiomyopathy, Dilated
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genetics,
pathology* Cell Line Fatty Acids / metabolism Humans Lymphocytes / pathology* Male Mitochondria / pathology* Mutation Oxidative Phosphorylation Phospholipids / metabolism Proteins / genetics Reference Values Syndrome Transcription Factors / genetics |
| Chemical | |
Reg. No./Substance:
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0/Fatty Acids; 0/Phospholipids; 0/Proteins; 0/TAZ protein, human; 0/Transcription Factors |
| Comments/Corrections | |
Erratum In:
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Lab Invest. 2005 Jun;85(6):831 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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