Arrhythmogenic mechanisms in ryanodine receptor channelopathies
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چکیده
منابع مشابه
I-13 Muscle ryanodine receptor in congenital myopathies and channelopathies
potentials and twitch force were measured in muscle strips obtained from patients and controls. Of the 36 patients, 25 presented with chronic muscle weakness of varying degrees, up to wheelchair-dependence. The weakness was associated with intracellular Na overload and edema. Older patients revealed a vacuolar myopathy or a progressive muscular dystrophy. Weakness, intracellular Na overload and...
متن کاملComposite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.
OBJECTIVE Mutations in the cardiac ryanodine receptor (RYR2) gene have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC). The molecular mechanisms by which genetic modifications lead to ARVC are still not well understood. METHODS ARVC patients were screened for mutations in the RYR2 gene by denaturing HPLC and DNA sequencing. Single channel measurements were carrie...
متن کاملArrhythmogenic Human Calmodulin Missense Mutants Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels
Johnson, Michela Faggioni, Walter J. Chazin, Derek Laver, Alfred L. George, Jr, Razvan L. Hyun Seok Hwang, Florentin R. Nitu, Yi Yang, Kafa Walweel, Laetitia Pereira, Christopher N. Arrhythmogenic Human Calmodulin Missense Mutants Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels by Print ISSN: 0009-7330. Online ISSN: 1524-4571 Copyright © 2014 American Heart Association, In...
متن کاملDivergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
RATIONALE Calmodulin (CaM) mutations are associated with an autosomal dominant syndrome of ventricular arrhythmia and sudden death that can present with divergent clinical features of catecholaminergic polymorphic ventricular tachycardia (CPVT) or long QT syndrome (LQTS). CaM binds to and inhibits ryanodine receptor (RyR2) Ca release channels in the heart, but whether arrhythmogenic CaM mutants...
متن کاملPCB-95 Promotes Dendritic Growth via Ryanodine Receptor–Dependent Mechanisms
BACKGROUND Aroclor 1254 (A1254) interferes with normal dendritic growth and plasticity in the developing rodent brain, but the mechanism(s) mediating this effect have yet to be established. Non-dioxin-like (NDL) polychlorinated biphenyls (PCBs) enhance the activity of ryanodine receptor (RyR) calcium ion (Ca(2+)) channels, which play a central role in regulating the spatiotemporal dynamics of i...
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ژورنال
عنوان ژورنال: Science China Life Sciences
سال: 2014
ISSN: 1674-7305,1869-1889
DOI: 10.1007/s11427-014-4778-z