PO-616-04 A NOVEL CPVT-ASSOCIATED CALMODULIN MUTATION CAUSES SEVERE CA2+ LEAKAGE FROM SARCOPLASMIC RETICULUM IN IPSC MODEL BY ACTIVATING THE CARDIAC RYANODINE RECEPTORS

Abstract

Calmodulin (CaM) is an intermediate calcium-binding messenger protein and it is very unique that three genes (CALM1-3) encode identical CaM proteins in human. Recently, mutations in CALM have been reported to be associated with long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). CALM-related CPVT cases are rare and the underlying disease-causing mechanisms have not been fully elucidated in human cardiomyocytes.