Biophysical properties of human b-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy
نویسندگان
چکیده
Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305, USA. Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Department of Pediatrics (Cardiology), Stanford University School of Medicine, Stanford, CA 94305, USA. *Corresponding author. Email: [email protected] (J.A.S.); kruppel@stanford. edu (K.M.R.)
منابع مشابه
Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) affects 1 in 500 individuals and is an important cause of arrhythmias and heart failure. Clinically, HCM is characterized as causing hypercontractility, and therapies are aimed toward controlling the hyperactive physiology. Mutations in the β-cardiac myosin comprise ~40% of genetic mutations associated with HCM, and the converter domain of myosin is a hotspot f...
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Myosin Mutant That Breaks Hearts Genetically linked hypertrophic cardiomyopathy [HCM; also known as familial hypertrophic cardiomyopathy (FHC)] afflicts 1 in 500 people (1). The most prominent phenotypes of HCM include increased arrhythmias and sudden cardiac arrest, even in otherwise healthy adults and children. The HCM pathologies are associated with increased thickening of the ventricular wa...
متن کاملHypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy is a multigenetic cardiac disease with autosomal dominant pattern of inheritance and incomplete penetrance, with the exclusion of those cases caused by mutations in the mitochondrial genome. The disease is usually caused by mutations in several sarcomeric contractile protein genes. Mutations have been found in four genes that encode components of the thick filament: ...
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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1). Apical hypertrophic cardiomyopathy (AHCM) is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2). Herein, we presented the case of a 29-year-old man ...
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Inherited cardiomyopathies are a common form of heart disease that are caused by mutations in sarcomeric proteins with beta cardiac myosin (MYH7) being one of the most frequently affected genes. Since the discovery of the first cardiomyopathy associated mutation in beta-cardiac myosin, a major goal has been to correlate the in vitro myosin motor properties with the contractile performance of ca...
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تاریخ انتشار 2017