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Article

Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia.

Circulation research - 30 Jan 2009

Fernández-Velasco María, Rueda Angélica, Rizzi Nicoletta, Benitah Jean-Pierre, Colombi Barbara, Napolitano Carlo, Priori Silvia G, Richard Sylvain, Gómez Ana María

Abstract excerpt

Cardiac ryanodine receptor (RyR2) mutations are associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia, suggesting that alterations in Ca(2+) handling underlie this disease. Here we analyze the underlying Ca(2+) release defect that leads to arrhythmia in cardiomyocytes isolated from heterozygous knock-in mice carrying the RyR2(R4496C) mutation. RyR2(R4496C-/-) littermates (wild...

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Identifiers

PMID: 19096022
DOI: 10.1161/CIRCRESAHA.108.177493
PMCID: PMC2796688

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia.PMID 19096022Read ↗

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