The novel SCN5A mutation G1712C leads to a loss of sodium channel expression, providing a molecular basis for its role in Brugada syndrome.
Hypothesis-generating for SCN5A loss-of-function in Brugada; leaves open human validation before any clinical translation.
OBJECTIVE: To elucidate the molecular and electrophysiological mechanisms of Brugada syndrome through functional analysis of a novel SCN5A gene mutation G1712C. METHODS: currents were recorded using whole-cell patch-clamp technique. Data acquisition and analysis, generation of voltage commands and curve fitting were accomplished with EPC-10, PatchMaster and IGOR Pro 6.0. RESULTS: current in the cells. CONCLUSION: channel, the wild-type channel exhibits a similar sodium current. The characteristic kinetics of sodium channel of WT-hH1 was identical to that in normal cardiac muscle cell, and the missense mutation (G1712C) in the P-loop region of the domain IV may have caused the failure of sodium channel expression.
No takes yet. Share an insight, caveat, or question.
Chen et al. (2016) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: