Investigating the functional consequences of cardiac ryanodine receptor (RyR2) polymorphisms on arrhythmia-linked Ca2+ release dysfunction

Clack, Aaron Ian 2010. Investigating the functional consequences of cardiac ryanodine receptor (RyR2) polymorphisms on arrhythmia-linked Ca2+ release dysfunction. PhD Thesis, Cardiff University.

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Abstract

This data provides compelling evidence that mutation-linked RyR2 channel dysfunction is modulated by common sequence polymorphisms and predicts that a more severe clinical phenotype results from the in cis inheritance of G1885E / L433P. Our studies also show that co-expression of L433P and G1885E subunits partially restores the functionality of the resultant heterotetrameric channels. The potential therapeutic benefits of positively modulating RyR2 mutant channel dysfunction via such a trans-complementation approach remain to be explored.

Item Type:	Thesis (PhD)
Status:	Unpublished
Schools:	Schools > Medicine
Subjects:	R Medicine > RC Internal medicine
Funders:	Contica
Date of First Compliant Deposit:	30 March 2016
Last Modified:	23 Aug 2025 12:56
URI:	https://orca.cardiff.ac.uk/id/eprint/54155

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