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Elementary mechanisms of calmodulin regulation of Na <sub>V</sub> 1.5 producing divergent arrhythmogenic phenotypes

Po Wei Kang, Nourdine Chakouri, Johanna Diaz, Gordon F. Tomaselli, David T. Yue, Manu Ben‐Johny

2021Proceedings of the National Academy of Sciences29 citationsDOIOpen Access PDF

Abstract

Significance Calmodulin (CaM) regulation of cardiac Na V channels is vital for cardiac physiology and pathophysiology. Channelopathic mutations in Na V 1.5 that disrupt CaM binding trigger two mechanistically divergent arrhythmia syndromes. Specifically, long QT syndrome 3 results from a gain-of-channel function, while Brugada syndrome stems from a loss-of-channel function. Yet, mechanisms that elicit seemingly paradoxical changes in channel function are unknown. Using single-channel analysis, we demonstrate that the disruption of CaM binding to Na V 1.5 diminishes channel activity and enhances the propensity for persistent Na + current, all resulting from a switch in the Na V inactivation mechanism. These findings reveal insights into the mechanism of CaM regulation of Na V channels as well as inform upon alterations in channel function that trigger life-threatening arrhythmias.

Topics & Concepts

CalmodulinGatingCell biologyProtein subunitPhenotypeBrugada syndromeBiologyMutantGeneticsBiophysicsChemistryNeuroscienceBiochemistryGeneEnzymeCardiac electrophysiology and arrhythmiasIon channel regulation and functionNicotinic Acetylcholine Receptors Study