Key result
Heterogeneity in RyR2 mutation function suggests that comprehensive, case-by-case characterization of mutations may be necessary for the development of targeted pharmaceutical therapies.
A comprehensive, case-by-case characterization of RyR2 mutations may be necessary for developing specifically targeted therapies for inherited arrhythmias.
Mutations in RyR2 are causative of an inherited disorder which often results in sudden cardiac death. Dysfunctional channel behaviour has been the subject of many investigations varying from single channel analysis through to complex animal models. This review discusses recent advances in the field, describes the controversy surrounding the exact consequences of RyR2 mutation and how the disparate data may be reconciled. This heterogeneity of function with respect to the effects of polymorphisms, phosphorylation, cytosolic and luminal Ca(2+) as well as inter-domain interactions may have important implications for the recent pharmaceutical therapies which have been put forward. We surmise that a comprehensive characterisation of mutations on a case-by-case basis may be beneficial for the development of specifically targeted therapies.
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Thomas et al. (2010) conducted a review in Arrhythmia associated with RyR2 mutations. RyR2 mutations was evaluated. Heterogeneity in RyR2 mutation function suggests that comprehensive, case-by-case characterization of mutations may be necessary for the development of targeted pharmaceutical therapies.
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