Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy.
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.
Redwood
C S
CS
Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, UK.
Moolman-Smook
J C
JC
Watkins
H
H
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics; D003285:Contractile Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics / Q000378:metabolism; D018994:Myosin Light Chains / Q000235:genetics / Q000378:metabolism; D012518:Sarcomeres / Q000235:genetics* / Q000378:metabolism; D014335:Tropomyosin / Q000235:genetics / Q000378:metabolism; D019210:Troponin I / Q000235:genetics / Q000378:metabolism; D020107:Troponin T / Q000235:genetics / Q000378:metabolism; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D003285:Contractile Proteins; D018995:Myosin Heavy Chains; D018994:Myosin Light Chains; D014335:Tropomyosin; D019210:Troponin I; D020107:Troponin T; D000099163:Myosin Binding Protein C