Article
Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2).
Circulation research - 18 Aug 2017
Bongianino Rossana, Denegri Marco, Mazzanti Andrea, Lodola Francesco, Vollero Alessandra, Boncompagni Simona, Fasciano Silvia, Rizzo Giulia, Mangione Damiano, Barbaro Serena, Di Fonso Alessia, Napolitano Carlo, Auricchio Alberto, Protasi Feliciano, Priori Silvia G
Abstract excerpt
RATIONALE: Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant catecholaminergic polymorphic ventricular tachycardia (CPVT), a leading cause of sudden death in apparently healthy individuals exposed to emotions or physical exercise. OBJECTIVE: We investigated the efficacy of allele-specific silencing by RNA interference to prevent CPVT phenotypic manifestations in our dominant CPVT mice model...
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