Molecular mechanisms regulating the myofilament response to Ca2+: implications of mutations causal for familial hypertrophic cardiomyopathy

In this chapter we consider a current perception of the molecular mechanisms controlling myofilament activation with emphasis on alterations that may occur in familial hypertrophic cardiomyopathy (FHC). FHC is a sarcomeric disease (100) with an autosomal dominant pattern of heritability (27, 51). Th...

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Bibliographic Details
Published in:Basic research in cardiology 1997, Vol.92 Suppl 1 (S1), p.63-74
Main Authors: Palmiter, K A, Solaro, R J
Format: Article
Language:English
Subjects:
Actin Cytoskeleton - physiology
Animals
Calcium - physiology
Cardiomyopathy, Hypertrophic - genetics
Humans
Mutation
Myosins - genetics
Myosins - physiology
Tropomyosin - genetics
Troponin - genetics
Troponin T
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Summary:In this chapter we consider a current perception of the molecular mechanisms controlling myofilament activation with emphasis on alterations that may occur in familial hypertrophic cardiomyopathy (FHC). FHC is a sarcomeric disease (100) with an autosomal dominant pattern of heritability (27, 51). There is a substantial body of evidence implicating missense mutations in the beta-MHC gene as causal for the development of this disease. Recently, mutations in genes of two thin filament regulatory proteins, cardiac troponin T(cTnT) and alpha-tropomyosin (alpha-Tm), have also been linked to FHC. The commonality among the functional consequences of these mutations remains an important question. This review discusses how these pathological mutations may impact the activation process by disrupting critical structure function relations in both the thick and thin filaments.
ISSN:0300-8428
1435-1803
DOI:10.1007/bf00794070