TY - JOUR
T1 - Sarcomeric protein mutations in dilated cardiomyopathy
AU - Chang, Audrey N.
AU - Potter, James D.
N1 - Funding Information:
This work was supported by NIH Grants HL67415 and HL-42325 Address for correspondence: Department of Molecular and Cellular Pharmacology, University of Miami, Miller School of Medicine, 1600 NW 10th Ave (R-189), Miami, Florida 33136. Tel.: 305-243-5874; Fax: 305-324-6024; E-Mail: jdpotter@miami.edu
PY - 2005/9
Y1 - 2005/9
N2 - This review aims to provide a concise summary of the DCM associated mutations identified in the proteins of the sarcomere and cytoskeleton, and discuss the reported effects of the mutations, as determined by functional studies, and in relation to the known structure of the protein affected. The mechanisms by which single missense mutations in the proteins of the sarcomere can lead to similar diseases as those caused by mutations in the proteins of the sarcolemma and cytoskeleton, are still unknown. However, a wide variety of mutations being associated with DCM suggests a complex mechanism shared by the proteins affected. The DCM mutations reviewed here are those of the β-myosin heavy chain (β-MHC), myosin binding protein-C (MyBP-C), actin, α- tropomyosin (Tm), troponin T (TnT), troponin I (TnI), troponin C (TnC), of the sarcomere, and titin, T-cap, desmin, vinculin, and muscle LIM protein (MLP) of the cytoskeleton.
AB - This review aims to provide a concise summary of the DCM associated mutations identified in the proteins of the sarcomere and cytoskeleton, and discuss the reported effects of the mutations, as determined by functional studies, and in relation to the known structure of the protein affected. The mechanisms by which single missense mutations in the proteins of the sarcomere can lead to similar diseases as those caused by mutations in the proteins of the sarcolemma and cytoskeleton, are still unknown. However, a wide variety of mutations being associated with DCM suggests a complex mechanism shared by the proteins affected. The DCM mutations reviewed here are those of the β-myosin heavy chain (β-MHC), myosin binding protein-C (MyBP-C), actin, α- tropomyosin (Tm), troponin T (TnT), troponin I (TnI), troponin C (TnC), of the sarcomere, and titin, T-cap, desmin, vinculin, and muscle LIM protein (MLP) of the cytoskeleton.
KW - Cardiac muscle
KW - Dilated cardiomyopathy
KW - Mutations
KW - Sarcomeric proteins
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U2 - 10.1007/s10741-005-5252-6
DO - 10.1007/s10741-005-5252-6
M3 - Review article
C2 - 16416045
AN - SCOPUS:30944435503
SN - 1382-4147
VL - 10
SP - 225
EP - 235
JO - Heart Failure Reviews
JF - Heart Failure Reviews
IS - 3
ER -