Article
Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model.
Circulation research - 1 Aug 2008
Rizzi Nicoletta, Liu Nian, Napolitano Carlo, Nori Alessandra, Turcato Federica, Colombi Barbara, Bicciato Silvio, Arcelli Diego, Spedito Alessandro, Scelsi Mario, Villani Laura, Esposito Giovanni, Boncompagni Simona, Protasi Feliciano, Volpe Pompeo, Priori Silvia G
Abstract excerpt
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by life threatening arrhythmias elicited by physical and emotional stress in young individuals. The recessive form of CPVT is associated with mutation in the cardiac calsequestrin gene (CASQ2). We engineered and characterized a homozygous CASQ2(R33Q/R33Q) mouse model that closely mimics the clinical...
Topics
- Animals
- Arrhythmias, Cardiac
- Calcium
- Calsequestrin
- Disease Models, Animal
- Electrophysiology
- Homozygote
- Mice
- Mice, Transgenic