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. 2008 Jun;72(6):1018-9.
doi: 10.1253/circj.72.1018.

Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome

Naomasa Makita  1 , Naoki Mochizuki, Hiroyuki Tsutsui
Affiliations
Free article

Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome

Naomasa Makita et al. Circ J. 2008 Jun.
Free article

Abstract

Background: A trafficking defect of mutant cardiac Na-channels (SCN5A) has been implicated in Brugada syndrome. Although R1232W polymorphism and T1620M mutation by themselves have little effect on Na-channel function, their combination has been reported to disrupt membrane trafficking, resulting in a non-functioning Na channel.

Methods and results: Contrary to previous findings, patch-clamp recordings of heterologously expressed R1232W/T1620M showed robust Na currents and confocal microscopy exhibited predominant expression in the plasma membrane, similar to the wild-type channel.

Conclusions: It is unlikely that an intragenic interaction between R1232W and T1620M of SCN5A causes a trafficking defect leading to a non-functioning Na channel.

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