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

Naomasa Makita, Naoki Mochizuki, Hiroyuki Tsutsui

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1018-1019
Number of pages2
JournalCirculation Journal
Volume72
Issue number6
DOIs
Publication statusPublished - Jul 1 2008
Externally publishedYes

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Brugada Syndrome
Confocal Microscopy
Cell Membrane
Mutation
Membranes

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. / Makita, Naomasa; Mochizuki, Naoki; Tsutsui, Hiroyuki.

In: Circulation Journal, Vol. 72, No. 6, 01.07.2008, p. 1018-1019.

Research output: Contribution to journalArticle

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