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Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death

Nomikos, Michail, Thanassoulas, Angelos, Beck, Konrad ORCID: https://orcid.org/0000-0001-5098-9484, Vassilakopoulou, Vyronia, Hu, Handan, Calver, Brian Lewis, Theodoridou, Maria, Kashir, Junaid, Blayney, Lynda Mary, Livaniou, Evangelia, Rizkallah, Pierre ORCID: https://orcid.org/0000-0002-9290-0369, Nounesis, George and Lai, Francis Anthony ORCID: https://orcid.org/0000-0003-2852-8547 2014. Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death. Febs Letters 588 (17) , pp. 2898-2902. 10.1016/j.febslet.2014.07.007

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Abstract

Calmodulin (CaM) association with the cardiac muscle ryanodine receptor (RyR2) regulates excitation–contraction coupling. Defective CaM–RyR2 interaction is associated with heart failure. A novel CaM mutation (CaMF90L) was recently identified in a family with idiopathic ventricular fibrillation (IVF) and early onset sudden cardiac death. We report the first biochemical characterization of CaMF90L. F90L confers a deleterious effect on protein stability. Ca2+-binding studies reveal reduced Ca2+-binding affinity and a loss of co-operativity. Moreover, CaMF90L displays reduced RyR2 interaction and defective modulation of [3H]ryanodine binding. Hence, dysregulation of RyR2-mediated Ca2+ release via aberrant CaMF90L–RyR2 interaction is a potential mechanism that underlies familial IVF.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Dentistry
Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Calmodulin, Calcium, Ryanodine receptor, RyR2 calcium release channel, Idiopathic ventricular fibrillation, Sudden cardiac death.
Publisher: Elsevier
ISSN: 0014-5793
Date of Acceptance: 1 July 2014
Last Modified: 27 Oct 2022 10:01
URI: https://orca.cardiff.ac.uk/id/eprint/68577

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