title: Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
abstract: Cardiac calsequestrin (Casq2) is the major Ca2+ binding protein in the sarcoplasmic reticulum, which is the principle Ca2+ storage organelle of cardiac muscle. During the last decade, experimental studies have provided new concepts on the role of Casq2 in the regulation of cardiac muscle Ca2+ handling. Furthermore, mutations in the gene encoding for cardiac calsequestrin, CASQ2, cause a rare but severe form of catecholaminergic polymorphic ventricular tachycardia (CPVT). Here, we review the physiology of Casq2 in cardiac Ca2+ handling and discuss pathophysiological mechanisms that lead to CPVT caused by CASQ2 mutations. We also describe the clinical aspects of CPVT and provide an update of its contemporary clinical management.
authors.affiliation: Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232-0575, USA.
authors.forename: Michela
authors.initials: M
authors.lastname: Faggioni
authors.forename: Dmytro O
authors.initials: DO
authors.lastname: Kryshtal
authors.forename: Björn C
authors.initials: BC
authors.lastname: Knollmann
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism*; D020013:Calcium Signaling; D002155:Calsequestrin / Q000235:genetics*; D004195:Disease Models, Animal; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D051379:Mice; D009154:Mutation; D032383:Myocytes, Cardiac / Q000378:metabolism*; D012519:Sarcoplasmic Reticulum; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: C443109:CASQ2 protein, human; D002155:Calsequestrin; C514388:casq2 protein, mouse; D002118:Calcium