Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes

George, Christopher H., Higgs, Gemma and Lai, Francis Anthony ORCID: https://orcid.org/0000-0003-2852-8547 2003. Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circulation Research 93 (6) , pp. 531-540. 10.1161/01.RES.0000091335.07574.86

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Abstract

Ca2+ release from the sarcoplasmic reticulum mediated by the cardiac ryanodine receptor (RyR2) is a fundamental event in cardiac muscle contraction. RyR2 mutations suggested to cause defective Ca2+ channel function have recently been identified in catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) affected individuals. We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum. N4104K also localized to the Golgi apparatus. Phenotypic characteristics including intracellular Ca2+ handling, proliferation, viability, RyR2:FKBP12.6 interaction, and beat rate in resting HL-1 cells expressing mutant hRyR2 were indistinguishable from wild-type (WT) hRyR2. However, Ca2+ release was augmented in cells expressing mutant hRyR2 after RyR activation (caffeine and 4-chloro-m-cresol) or

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Biosciences Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	ryanodine receptors ; mutations ; ventricular tachycardia ; stress ; cardiomyocytes
ISSN:	1524-4571
Last Modified:	17 Oct 2022 08:23
URI:	https://orca.cardiff.ac.uk/id/eprint/30

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