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The role of cytoskeletal proteins in cardiomyopathies
Author(s): Towbin JA
Source: CURRENT OPINION IN CELL BIOLOGY    Volume: 10    Issue: 1    Pages: 131-139    Published: FEB 1998  
Times Cited: 154     References: 68     
Abstract: Cardiomyopathies are serious heart muscle disorders in children and adults, which result in morbidity and premature death. These disorders include hypertrophic cardiomyopathy, dilated cardiomyopathy and restrictive cardiomyopathy. Recently, mutations in seven genes, all encoding sarcomeric proteins, have been identified as causes of familial hypertrophic cardiomyopathy. The genes include those encoding the beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, myosin binding protein-C, myosin essential light chain, myosin regulatory light chain, and troponin I. Advances in the understanding of dilated cardiomyopathy have been made recently as well and it appears as if cytoskeletal proteins play a central role. Dystrophin has been identified as the gene responsible for X-linked dilated cardiomyopathy and this protein, which is also responsible for Duchenne and Becker muscular dystrophy, plays an important role in myocyte and cardiomyocyte function. Mutations in other cytoskeletal proteins such as metavinculin, alpha-dystroglycan, alpha- and gamma-sarcoglycan, and muscle LIM protein have also been found to result in dilated cardiomyopathy, suggesting that cytoskeletal proteins play a central role in cardiac function.
Document Type: Article
Language: English
Reprint Address: Towbin, JA (reprint author), Baylor Coll Med, Dept Pediat Cardiol, 1 Baylor Plaza,Room 333E, Houston, TX 77030 USA
Addresses:
1. Baylor Coll Med, Dept Pediat Cardiol, Houston, TX 77030 USA
2. Texas Childrens Hosp, Houston, TX 77030 USA
Publisher: CURRENT BIOLOGY LTD, 34-42 CLEVELAND STREET, LONDON W1P 6LB, ENGLAND
Subject Category: Cell Biology
IDS Number: YW906
ISSN: 0955-0674
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