| Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion. | |
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MedLine Citation:
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PMID: 12711218 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genetic analysis of hypertrophic cardiomyopathy (HCM), a mendelian form of cardiac hypertrophy, indicates that the primary defect is in sarcomeric function. However, the initial proposal that depressed myocardial contraction leads to a 'compensatory' hypertrophy has proven inconsistent with laboratory and clinical evidence. Drawing on observations of mutant contractile protein function, together with mouse models and clinical studies, we propose that sarcomeric HCM mutations lead to inefficient ATP utilization. The suggestion that energy depletion underlies HCM is supported by the HCM-like phenotype found with mutations in a variety of metabolic genes. A central role for compromised energetics would also help explain the unresolved clinical observations of delayed onset and asymmetrical hypertrophy in HCM, and would have implications for therapy in HCM and, potentially, in more-common forms of cardiac hypertrophy and failure. |
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Authors:
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Houman Ashrafian; Charles Redwood; Edward Blair; Hugh Watkins |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Trends in genetics : TIG Volume: 19 ISSN: 0168-9525 ISO Abbreviation: Trends Genet. Publication Date: 2003 May |
Date Detail:
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Created Date: 2003-04-24 Completed Date: 2003-07-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8507085 Medline TA: Trends Genet Country: England |
Other Details:
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Languages: eng Pagination: 263-8 Citation Subset: IM |
Affiliation:
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Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphate
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metabolism Cardiomyopathy, Hypertrophic / genetics*, metabolism Energy Metabolism* Genetic Markers / genetics* Humans Mutation* Myocardium / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 56-65-5/Adenosine Triphosphate |
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