Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( RYR2 )

Rossana Bongianino; Marco Denegri; Andrea Mazzanti; Francesco Lodola; Alessandra Vollero; Simona Boncompagni; Silvia Fasciano; Giulia Rizzo; Damiano Mangione; Serena Barbaro; Alessia Di Fonso; Carlo Napolitano; Alberto Auricchio; Feliciano Protasi; Silvia G. Priori

doi:10.1161/circresaha.117.310882

June 16, 2017Circulation ResearchOpen Access

Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( RYR2 )

View Full Paper

Ask AI

Bookmark

Share

Why the study?

Does allele-specific silencing with miRYR2-U10 prevent life-threatening arrhythmias in CPVT mice?

Structured PICO

Does allele-specific silencing with miRYR2-U10 prevent life-threatening arrhythmias in CPVT mice?

P

Population

Mice carriers of the R4496C mutation in the Ryanodine Receptor Gene (RYR2) (CPVT mice)

I

Intervention

Allele-specific silencing with miRYR2-U10

O

Outcome

Prevention of life-threatening arrhythmias and rescue of ultrastructural phenotype

Reduction of mutant RyR2 via allele-specific silencing represents a potential novel therapeutic approach for catecholaminergic polymorphic ventricular tachycardia (CPVT).

Ask about this paper

Answers are grounded in this paper and cite their sources.

Implication

May support novel gene-silencing therapy for CPVT; hypothesis-generating in mice, leaves open human translation.

Abstract

The study demonstrates that allele-specific silencing with miRYR2-U10 prevents life-threatening arrhythmias in CPVT mice, suggesting that the reduction of mutant RyR2 may be a novel therapeutic approach for CPVT.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Bongianino et al. (2017) studied this question.

synapsesocial.com/papers/69df15249b582f29b9591799 https://doi.org/10.1161/circresaha.117.310882

View Full Paper

Ask AI

Bookmark

Share

Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( RYR2 )

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( RYR2 )

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Keep reading

Keep reading