Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle.
OBJECTIVE
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).


METHODS
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.
Tajsharghi
Homa
H
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden. Homa.Tajsharghi@gu.se
Fyhr
Ing-Marie
IM
D024722:Cardiac Myosins / Q000235:genetics* / Q000378:metabolism; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D002648:Child; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000473:pathology*; D004591:Electrophoresis, Polyacrylamide Gel; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D032383:Myocytes, Cardiac / Q000378:metabolism / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000235:genetics* / Q000378:metabolism
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains