August 15, 2006

Clinical Phenotype and Functional Characterization of CASQ2 Mutations Associated With Catecholaminergic Polymorphic Ventricular Tachycardia

Structured PICO

Do CASQ2(L167H) and CASQ2(G112+5X) mutations alter intracellular calcium regulation in cardiac myocytes?

Population

cardiac myocytes

Intervention

CASQ2(L167H) and CASQ2(G112+5X) mutations

Outcome

intracellular calcium regulation (sarcoplasmic reticulum Ca2+ release, calcium content, calcium-binding properties, delayed afterdepolarizations)surrogate

CASQ2 mutations L167H and G112+5X associated with CPVT create distinct abnormalities in intracellular calcium regulation that facilitate tachyarrhythmias.

Abstract

CASQ2(L167H) and CASQ2(G112+5X) alter CASQ2 function in cardiac myocytes, which leads to reduction of active sarcoplasmic reticulum Ca2+ release and calcium content. In addition, CASQ2(G112+5X) displays altered calcium-binding properties and leads to delayed afterdepolarizations. We conclude that the 2 CASQ2 mutations identified in CPVT create distinct abnormalities that lead to abnormal intracellular calcium regulation, thus facilitating the development of tachyarrhythmias.

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Cite This Study

Barletta et al. (Tue,) studied this question.

synapsesocial.com/papers/69da8d6a0d540cafc5839519 https://doi.org/https://doi.org/10.1161/circulationaha.106.623793

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