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

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Abstract

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 β-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 α-tropomyosin (α-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.

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  1. Department of Physiology and Biophysics, University of Illinois at Chicago, 901 S. Wolcott (M/C 901), 60612, Chicago, IL, USA

    K. A. Palmiter & R. J. Solaro

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Palmiter, K.A., Solaro, R.J. Molecular mechanisms regulating the myofilament response to Ca2+: Implications of mutations causal for familial hypertrophic cardiomyopathy. Basic Res Cardiol 92 (Suppl 1), 63–74 (1997). https://doi.org/10.1007/BF00794070

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