Abstract
Hypertrophic cardiomyopathy (HCM) is one of the most frequently occurring inherited cardiac disorders, affecting up to 1 in 500 of the population. Molecular genetic analysis has shown that HCM is a disease of the sarcomere, caused by mutations in certain contractile protein genes. To date seven disease-associated genes have been identified, those encoding beta-myosin heavy chain, both regulatory and essential myosin light chains, myosin binding protein-C, cardiac troponin T, cardiac troponin I and alpha-tropomyosin. Here we review the analyses of how these mutations affect the in vitro contractile protein function and the hypotheses derived to explain the development of the disease state.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Cardiomyopathy, Hypertrophic / genetics*
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Cardiomyopathy, Hypertrophic / metabolism
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Carrier Proteins / genetics
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Contractile Proteins / genetics*
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Contractile Proteins / metabolism
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Humans
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Mutation*
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Myosin Heavy Chains / genetics
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Myosin Heavy Chains / metabolism
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Myosin Light Chains / genetics
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Myosin Light Chains / metabolism
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Sarcomeres / genetics*
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Sarcomeres / metabolism
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Tropomyosin / genetics
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Tropomyosin / metabolism
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Troponin I / genetics
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Troponin I / metabolism
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Troponin T / genetics
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Troponin T / metabolism
Substances
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Carrier Proteins
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Contractile Proteins
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Myosin Light Chains
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Tropomyosin
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Troponin I
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Troponin T
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myosin-binding protein C
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Myosin Heavy Chains