Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant

ISSN
1755-3245
Date Issued
2017
Author(s)
Tzimas, Christos
Johnson, Daniel M.
Santiago, Demetrio J.
Vafiadaki, Elizabeth
Arvanitis, Demetrios A.
Davos, Constantinos H.
Varela, Aimilia
Athanasiadis, Nikolaos C.
Dimitriou, Constantinos
Katsimpoulas, Michalis
Sonntag, Stephan
Kryzhanovska, Mariya
Shmerling, Doron
Sipido, Karin R.
Kranias, Evangelia G.
Sanoudou, Despina
DOI
10.1093/cvr/cvx113
Abstract
The histidine-rich calcium-binding protein (HRC) Ser96Ala variant has previously been identified as a potential biomarker for ventricular arrhythmias and sudden cardiac death in patients with idiopathic dilated cardiomyopathy. Herein, the role of this variant in cardiac pathophysiology is delineated through a novel mouse model, carrying the human mutation in the homologous mouse position.