Familial Hypertrophic Cardiomyopathy Mutations of the Myosin Regulatory Light Chain Remove Myosin Load Sensitivity
نویسندگان
چکیده
منابع مشابه
-Myosin Heavy Chain Gene Mutations in Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (FHC) is a genetic disorder arising from mutations in sarcomeric protein genes. Human genetic studies have implicated at least 9 different genes in FHC, emphasizing the enormous genetic and allelic heterogeneity associated with FHC.1 -Myosin heavy chain ( MyHC, MYH7) is the most commonly mutated gene in FHC, and at least 60 different MYH7 gene mutations have...
متن کاملFunctional Consequences of Mutations in the Myosin Regulatory Light Chain Associated with Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by left ventricular wall thickening, myofilament disarray and abnormal echocardiography findings. Molecular genetic studies have defined FHC as a disease of the sarcomere caused by mutations in all major sarcomeric proteins, such as ┚-myosin heavy chain (44%), myosin binding protein C (35%), regulatory lig...
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Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in sarcomeric proteins including the myosin regulatory light chain (RLC). Two such FHC mutations, R58Q and N47K, located near the cationic binding site of the RLC, have been identified from population studies. To examine the molecular basis for the observed phenotypes, we exchanged endogenous RLC from native porcine cardiac myosi...
متن کاملMutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in 9 sarcomeric protein genes. The most commonly affected is beta-myosin heavy chain (MYH7), where missense mutations cluster in the head and neck regions and directly affect motor function. Comparable mutations have not been described in the light meromyosin (LMM) region of the myosin rod, nor would these be expected to directly...
متن کاملPrognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Three novel beta cardiac myosin heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in exon 15 (Phe513Cys) does not alter the charge of the encoded amino acid, and affected family members have a near normal life expectancy. The Gly716Arg mutation (exon 19; charge change of +1) causes F...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2010
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2009.12.1163