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• W3092103467 abstract "Mutations in the calcium-binding protein calsequestrin cause the highly lethal familial arrhythmia catecholaminergic polymorphic ventricular tachycardia (CPVT). In vivo, calsequestrin multimerizes into filaments, but there is not yet an atomic-resolution structure of a calsequestrin filament. We report a crystal structure of a human cardiac calsequestrin filament with supporting mutational analysis and in vitro filamentation assays. We identify and characterize a new disease-associated calsequestrin mutation, S173I, that is located at the filament-forming interface, and further show that a previously reported dominant disease mutation, K180R, maps to the same surface. Both mutations disrupt filamentation, suggesting that disease pathology is due to defects in multimer formation. An ytterbium-derivatized structure pinpoints multiple credible calcium sites at filament-forming interfaces, explaining the atomic basis of calsequestrin filamentation in the presence of calcium. Our study thus provides a unifying molecular mechanism through which dominant-acting calsequestrin mutations provoke lethal arrhythmias. A new X-ray crystal structure and supporting biochemical analyses of the human cardiac calsequestrin polymer reveal the basis of filament assembly and map disease-associated mutations to the multimerization interface." @default.
• W3092103467 created "2020-10-15" @default.
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• W3092103467 date "2020-10-12" @default.
• W3092103467 modified "2023-09-25" @default.
• W3092103467 title "The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia" @default.
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• W3092103467 doi "https://doi.org/10.1038/s41594-020-0510-9" @default.
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