Molecular Genetic and Functional Characterization Implicate Muscle-Restricted Coiled-Coil Gene (MURC) as a Causal Gene for Familial Dilated Cardiomyopathy

• Published in: Circulation. Cardiovascular genetics Vol. 4; no. 4; pp. 349 - 358
• Main Authors: Rodriguez, Gabriela, Ueyama, Tomomi, Ogata, Takehiro, Czernuszewicz, Grazyna, Tan, Yanli, Dorn, Gerald W., Bogaev, Roberta, Amano, Katsuya, Oh, Hidemasa, Matsubara, Hiroaki, Willerson, James T., Marian, Ali J.
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD American Heart Association, Inc 01.08.2011; Lippincott Williams & Wilkins
• Subjects: Animals; Biological and medical sciences; Cardiology. Vascular system; Cardiomyopathy, Dilated - etiology; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Hypertrophic - genetics; Case-Control Studies; DNA Mutational Analysis; General aspects. Genetic counseling; Heart; Heart failure, cardiogenic pulmonary edema, cardiac enlargement; Humans; Medical genetics; Medical sciences; Muscle Cells - metabolism; Muscle Cells - pathology; Muscle Proteins - genetics; Muscle Proteins - physiology; Mutant Proteins - genetics; Mutation; Myocarditis. Cardiomyopathies; Rats; Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases; Surgery of the heart; Transfection; Vesicular Transport Proteins; Chromosomal aberration; Cardiac performance; Arrhythmia; Inheritance; Check; Cardiovascular disease; Myocardial disease; Coil; Characterization; Regulation(control); Gene; Surgery; Heart disease; Deletion; Graft; Genetics; Muscle; cardiomyopathy; Human; Heart failure; Healthy subject; Family study; Rodentia; Method; Protein A; RhoA; Genetic disease; Variant; Segregation analysis; Vertebrata; Phenotype; Mammalia; Genetic counseling; Treatment; Congestive hypertrophic cardiomyopathy; Mouse; Dilated cardiomyopathy; Animal; Hypertrophic cardiomyopathy; Cytoskeleton; Cardiac transplantation; Mutation; Technique; Severe

BACKGROUND—Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are classic forms of systolic and diastolic heart failure, respectively. Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of HCM and DCM. MURC, encoding muscle-restricted coiled-coil, a Z-li...