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Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
2008 (English)In: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 42, no 2, 153-156 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: Hypertrophic cardiomyopathy (HCM) represents an important cause of sudden cardiac death particularly in otherwise healthy young individuals. In some families, HCM is caused by distinct mutations of the cardiac beta myosin heavy chain gene (MYH7).

DESIGN: We have analyzed the expression of the malignant MYH7Arg453Cys mutation, in cardiac and skeletal muscle, and related it to morphological alterations.

RESULTS: Morphological investigation revealed hypertrophic cardiomyocytes but regularly arranged myofibrils. Skeletal muscle showed no sign of structural alterations.

CONCLUSIONS: Our results indicate that cardiomyocyte hypertrophy is secondary, due to impaired function, and that the mutation causes no structural alteration in myofibrillar structure in cardiac or skeletal muscle.

Place, publisher, year, edition, pages
Informa Healthcare, 2008. Vol. 42, no 2, 153-156 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11965DOI: 10.1080/14017430701762701ISI: 000254350000009PubMedID: 18365899ScopusID: 2-s2.0-41549148769OAI: oai:DiVA.org:his-11965DiVA: diva2:906965
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-02-29Bibliographically approved

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