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The Journal of Clinical Investigation
Article . 2008 . Peer-reviewed
Data sources: Crossref
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Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice

Authors: LEHNART SE; MONGILLO, MARCO; BELLINGER A; LINDEGGER N; CHEN BX; HSUEH W; REIKEN S; +7 Authors

Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice

Abstract

The Ca2+ release channel ryanodine receptor 2 (RyR2) is required for excitation-contraction coupling in the heart and is also present in the brain. Mutations in RyR2 have been linked to exercise-induced sudden cardiac death (catecholaminergic polymorphic ventricular tachycardia [CPVT]). CPVT-associated RyR2 mutations result in "leaky" RyR2 channels due to the decreased binding of the calstabin2 (FKBP12.6) subunit, which stabilizes the closed state of the channel. We found that mice heterozygous for the R2474S mutation in Ryr2 (Ryr2-R2474S mice) exhibited spontaneous generalized tonic-clonic seizures (which occurred in the absence of cardiac arrhythmias), exercise-induced ventricular arrhythmias, and sudden cardiac death. Treatment with a novel RyR2-specific compound (S107) that enhances the binding of calstabin2 to the mutant Ryr2-R2474S channel inhibited the channel leak and prevented cardiac arrhythmias and raised the seizure threshold. Thus, CPVT-associated mutant leaky Ryr2-R2474S channels in the brain can cause seizures in mice, independent of cardiac arrhythmias. Based on these data, we propose that CPVT is a combined neurocardiac disorder in which leaky RyR2 channels in the brain cause epilepsy, and the same leaky channels in the heart cause exercise-induced sudden cardiac death.

Keywords

Heterozygote, Epilepsy, Polymorphism, Genetic, Models, Genetic, Mutation, Missense, Mice, Transgenic, Ryanodine Receptor Calcium Release Channel, Hippocampus, Models, Biological, Tacrolimus Binding Proteins, Mice, Death, Sudden, Cardiac, Ventricular arrhythmias; Calcium signalling; cardiomyocytes; Patch clamp, Mutation, Animals

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
333
Top 1%
Top 1%
Top 1%
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