The cardiac isoform of MyBP-C is expressed exclusively in cardiac muscle throughout development, suggesting transcomplementation is possible in skeletal but not cardiac muscle.
Demonstrates that the cardiac isoform of MyBP-C is exclusively expressed in cardiac muscle during development, implying that transcomplementation by other isoforms cannot occur in the heart, which is relevant for the pathogenesis of familial hypertrophic cardiomyopathy.
Mutations in the gene for the cardiac isoform of myosin binding protein C (MyBP-C) have been identified as the cause of chromosome 11-associated autosomal-dominant familial hypertrophic cardiomyopathy (FHC). Most mutations produce a truncated polypeptide that lacks the sarcomeric binding region. We have now investigated the expression pattern of the cardiac and skeletal isoforms of cMyBP-C in mice and humans by in situ hybridization and immunofluorescence microscopy using specific antibodies and probes. We demonstrate that the cardiac isoform is expressed only in cardiac muscle throughout development. The slow and fast isoforms of MyBP-C remain specific for skeletal muscle, where they can be coexpressed. Immunological evidence also suggests that an embryonic isoform of MyBP-C precedes the expression of slow MyBP-C in developing skeletal muscle. This suggests that transcomplementation of MyBP-C isoforms is possible in skeletal but not cardiac muscle.
Gautel et al. (Fri,) conducted a other in Familial hypertrophic cardiomyopathy (FHC). MyBP-C isoform expression was evaluated on Expression pattern of cardiac and skeletal isoforms of cMyBP-C. The cardiac isoform of MyBP-C is expressed exclusively in cardiac muscle throughout development, suggesting transcomplementation is possible in skeletal but not cardiac muscle.
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