title: Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin.
abstract: Development of cardiac arrhythmias in several degenerative cardiac disorders such as heart failure is precipitated by abnormalities in intracellular calcium regulation. Recently, the identification of mutations in proteins responsible for the control of intracellular calcium has been associated with an inherited arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia (CPVT). Here, we review the current knowledge about the molecular pathophysiology of CPVT and we discuss some potentially innovative strategies for controlling calcium-handling abnormalities in CPVT that may provide novel therapeutic options for affected patients.
authors.affiliation: Molecular Cardiology, Fondazione Salvatore Maugeri, Via Maugeri 10/1-A, 27100 Pavia Italy.
authors.forename: Nian
authors.initials: N
authors.lastname: Liu
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Priori
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002118:Calcium / Q000378:metabolism*; D002155:Calsequestrin / Q000235:genetics*; D006706:Homeostasis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017434:Protein Structure, Tertiary; D019837:Ryanodine Receptor Calcium Release Channel / Q000737:chemistry / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000209:etiology* / Q000235:genetics / Q000378:metabolism
chemical_list: C443109:CASQ2 protein, human; D002155:Calsequestrin; D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium