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  Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome.

Dudek, J., Cheng, I. F., Chowdhury, A., Wozny, K., Balleininger, M., Reinhold, R., et al. (2015). Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. EMBO Molecular Medicine, 8(2), 139-154. doi:10.15252/emmm.201505644.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0029-C6F7-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002C-8211-C
Genre: Journal Article

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 Creators:
Dudek, J., Author
Cheng, I. F., Author
Chowdhury, A., Author
Wozny, K., Author
Balleininger, M., Author
Reinhold, R., Author
Grunau, S., Author
Callegari, S., Author
Toischer, K., Author
Wanders, R. J. A., Author
Hasenfuss, G., Author
Brugger, B., Author
Guan, K. M., Author
Rehling, P.1, Author              
Affiliations:
1Max Planck Fellow Peter Rehling, ou_1298545              

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Free keywords: Barth syndrome; cardiolipin; mitochondria; respiratory chain; succinate dehydrogenase
 Abstract: Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin. It has remained enigmatic as to why a systemic loss of cardiolipin leads to cardiomyopathy. Using a genetic ablation of tafazzin function in the BTHS mouse model, we identified severe structural changes in respiratory chain supercomplexes at a pre-onset stage of the disease. This reorganization of supercomplexes was specific to cardiac tissue and could be recapitulated in cardiomyocytes derived from BTHS patients. Moreover, our analyses demonstrate a cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme linking the respiratory chain with the tricarboxylic acid cycle. As a similar defect of SDH is apparent in patient cell-derived cardiomyocytes, we conclude that these defects represent a molecular basis for the cardiac pathology in Barth syndrome.

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Language(s): eng - English
 Dates: 2015-12-23
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.15252/emmm.201505644
 Degree: -

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Title: EMBO Molecular Medicine
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 8 (2) Sequence Number: - Start / End Page: 139 - 154 Identifier: -