Population
HEK293 cells transfected with mouse RyR2 (wild-type or mutants R4496C, R4496E, R4496K)
Comparison
Expression of RyR2 mutation R4496C vs Wild-type RyR2
Design
Preclinical
Authors
Loading...
Hypothesis-generating for RyR2 arrhythmogenesis; human validation required before any clinical consideration.
The R4496C mutation in the RyR2 gene enhances basal channel activity and sensitivity to calcium, providing a cellular mechanism for effort-induced ventricular tachycardia.
Jiang et al. (2002) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: