Mutant cardiac ryanodine receptors and ventricular arrhythmias: is 'gain-of-function'obligatory?
In this issue of Cardiovascular Research, Thomas et al.[1] evidence functional differences
among sudden cardiac death (SCD)-linked ryanodine receptors (RyR2) mutants. They
challenge the conventional view that arrhythmogenic disorders associated with RyR2
mutations result exclusively from dgain-of-functionT channelopathies generating aberrant
spontaneous Ca2+ release [2–4]. Thomas et al.[1] now report a dloss-of-functionT
phenotype of one RyR2 mutant associated with SCD.
among sudden cardiac death (SCD)-linked ryanodine receptors (RyR2) mutants. They
challenge the conventional view that arrhythmogenic disorders associated with RyR2
mutations result exclusively from dgain-of-functionT channelopathies generating aberrant
spontaneous Ca2+ release [2–4]. Thomas et al.[1] now report a dloss-of-functionT
phenotype of one RyR2 mutant associated with SCD.
In this issue of Cardiovascular Research, Thomas et al.[1] evidence functional differences among sudden cardiac death (SCD)-linked ryanodine receptors (RyR2) mutants. They challenge the conventional view that arrhythmogenic disorders associated with RyR2 mutations result exclusively from dgain-of-functionT channelopathies generating aberrant spontaneous Ca2+ release [2–4]. Thomas et al.[1] now report a dloss-of-functionT phenotype of one RyR2 mutant associated with SCD.
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