Thin Filament Mutations
نویسندگان
چکیده
منابع مشابه
Thick and Thin Filament Gene Mutations in Striated Muscle Diseases
The sarcomere is the fundamental unit of cardiac and skeletal muscle contraction. During the last ten years, there has been growing awareness of the etiology of skeletal and cardiac muscle diseases originating in the sarcomere, an important evolving field. Many sarcomeric diseases affect newborn children, i. e. are congenital myopathies. The discovery and characterization of several myopathies ...
متن کاملPrevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
BACKGROUND Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes. However, the frequency of these mutations and their associated phenotype(s) from a large tertiary referral center population are unknown. METHODS AND RESULTS DNA was obtained from 389 unrelated patients with HCM. A mu...
متن کاملCongenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
In humans, congenital myopathy-linked tropomyosin mutations lead to skeletal muscle dysfunction, but the cellular and molecular mechanisms underlying such dysfunction remain obscure. Recent studies have suggested a unifying mechanism by which tropomyosin mutations partially inhibit thin filament activation and prevent proper formation and cycling of myosin cross-bridges, inducing force deficits...
متن کاملClinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations
BACKGROUND Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved. OBJECTIVES This study aimed to assess clinical features and outcomes in a large cohort of pati...
متن کاملHuman actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.
Two cardiomyopathic mutations were expressed in human cardiac actin, using a Baculovirus/insect cell system; E99K is associated with hypertrophic cardiomyopathy whereas R312H is associated with dilated cardiomyopathy. The hypothesis that the divergent phenotypes of these two cardiomyopathies are associated with fundamental differences in the molecular mechanics and thin filament regulation of t...
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ژورنال
عنوان ژورنال: Circulation Research
سال: 2011
ISSN: 0009-7330,1524-4571
DOI: 10.1161/circresaha.110.224170