Absence of a Trafficking Defect in R1232W/T1620M, a Double SCN5A Mutant Responsible for Brugada Syndrome

DOI Web Site 被引用文献2件 参考文献20件
  • Makita Naomasa
    Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine
  • Mochizuki Naoki
    Department of Structural Analysis, National Cardiovascular Center Research Institute
  • Tsutsui Hiroyuki
    Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine

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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. (Circ J 2008; 72: 1018 - 1019)<br>

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  • Circulation Journal

    Circulation Journal 72 (6), 1018-1019, 2008

    一般社団法人 日本循環器学会

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