| Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy. | |
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MedLine Citation:
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PMID: 22213221 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Several mutations in distinct genes, all coding for sarcomeric proteins, have been reported in unrelated kindreds with familial hypertrophic cardiomyopathy (FHC). We have identified 9 individuals from 3 families harbouring 2 distinct mutations in one copy of the β-myosin heavy chain (β-MHC) gene. In this study, the expression of the mutant β-myosin protein isoform, isolated from slow-twitch fibres of skeletal muscle, was demonstrated by Northern and Western blot analysis; this myosin showed a decreased in vitro motility activity and produced a lower actin-activated ATPase activity. Isometric tension, measured in single slow-twitch fibres isolated from the affected individuals, also showed a significant decrease. The degree of impairment of β-myosin function, as well as the loss in isometric tension development, were strictly dependent on the amount of the isoform transcribed from the mutated allele. Interestingly, a strong correlation was also demonstrated between mutant β-myosin content and clinical features of FHC. On the other hand, we were unable to detect any correlation between mutant β-myosin expression and degree of cardiac hypertrophy, thereby strengthening the hypothesis that hypertrophy, one of the hallmarks of FHC, might not necessarily be related to the clinical evolution of this disease. These findings lend support to the notion that additional factors rather than the mutated gene may play a pathogenetic role in cardiac wall thickening, whereas the prognosis appears to be strongly related to the amount of mutant protein. J. Cell. Physiol. © 2011 Wiley Periodicals, Inc. |
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Authors:
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Marina Di Domenico; Rita Casadonte; Pietroantonio Ricci; Carmela Ricciardi; Giacomo Frati; Alfonso Fiorelli; Mario Santini; Elvira Parrotta; Barbara Quaresima; Concetta M Faniello; Francesco Costanzo; Giovanni Cuda |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-29 |
Journal Detail:
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Title: Journal of cellular physiology Volume: - ISSN: 1097-4652 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2012-1-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0050222 Medline TA: J Cell Physiol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Department of General Pathology, II University, Napoli, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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