Mutation Analysis of the KCNJ8 Gene in Japanese Patients with J-Wave Syndrome and Idiopathic Ventricular Fibrillation

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概要

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• <B>Background:</B> Ventricular fibrillation (VF) is the most malignant arrhythmia causing the cardiac sudden death. Recently, the concept of J-wave syndrome (JWS), including the Brugada syndrome (BrS), has been proposed and early repolarization (J-point elevation) has been focused as one of clinical signs suggesting the primary electrical disease. A mutation of KCNJ8, S422L, was reported as the cause of JWS. In Japanese population with JWS or IVF, however, the prevalence of KCNJ8 mutations remains unknown. <B>Method and Result:</B> We screened KNCJ8 in 228 Japanese patients. They consisted of IVF patients with or without JWS (n=38) and asymptomatic JWS (mainly BrS, n=190), who were all negative for SCN5A mutation. The IVF group comprised 10 females and 28 males, and asymptomatic JWS group comprised 21 females and 169 males. In this cohort, we identified neither reported KCNJ8-S422L mutation nor other mutations including synonymous ones, using the denaturing high-performance liquid chromatography and the subsequent direct sequencing analysis. <B>Conclusion:</B> No KCNJ8 mutations were found in our Japanese IVF and asymptomatic JWS patients. Therefore KCNJ8 appears not to be the major gene responsible for IVF and asymptomatic JWS in Japan.

著者

• Makiyama Takeru

  Department Of Cardiology Hyogo Prefectural Amagasaki Hospital

• Kawamura Mihoko

  Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science

• Horie Minoru

  Department Of Cardiac Physiology National Cardiovascular Center Research Institute

• Naiki Nobu

  Department Of Cardiology Nagahama City Hospital

• Kimura Hiromi

  Department Of Anesthesiology Kansai Medical University

• Kato Koichi

  Department Of Biology Graduate School Of Natural Sciences Nagoya City University

• Ohno Seiko

  Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science

• Kimura Hiromi

  Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

• Qi Wang

  Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

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