Ryanodine receptor mutations in arrhythmia: the continuing mystery of channel dysfunction

Thomas, Nia Lowri ORCID: https://orcid.org/0000-0001-8822-8576, Maxwell, Chloe, Mukherjee, Saptarshi and Williams, Alan John 2010. Ryanodine receptor mutations in arrhythmia: the continuing mystery of channel dysfunction. FEBS Letters 584 (10) , pp. 2153-2160. 10.1016/j.febslet.2010.01.057

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Abstract

Mutations in RyR2 are causative of an inherited disorder which often results in sudden cardiac death. Dysfunctional channel behaviour has been the subject of many investigations varying from single channel analysis through to complex animal models. This review discusses recent advances in the field, describes the controversy surrounding the exact consequences of RyR2 mutation and how the disparate data may be reconciled. This heterogeneity of function with respect to the effects of polymorphisms, phosphorylation, cytosolic and luminal Ca2+ as well as inter-domain interactions may have important implications for the recent pharmaceutical therapies which have been put forward. We surmise that a comprehensive characterisation of mutations on a case-by-case basis may be beneficial for the development of specifically targeted therapies.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	arhythmia, a2+ release channel, catecholaminergic polymorphic ventricular tachycardia, ryanodine receptor, mutation
Publisher:	Elsevier
ISSN:	0014-5793
Last Modified:	19 Oct 2022 10:42
URI:	https://orca.cardiff.ac.uk/id/eprint/25253

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