チャネル病 (前篇)

チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である.QT延長症候群・Brugada症候群などは遺伝子異常・機能異常の解析が進んでいるが, 新たな展開として, 細胞骨格蛋白をコードするankyrin-Bの変異で細胞内Ca2+動態異常を主体とするQT延長症候群, KCNJ2 (Kir2.1) の変異でAndersen (Andersen-Tawil) 症候群, Ca2+チャネルをコードするCACNA1Aの変異でTimothy症候群がもたらされることが明らかとなった.Romano-Ward症候群3型 (LQT...

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Published in心電図 Vol. 25; no. 1; pp. 13 - 25
Main Author 古川, 哲史
Format Journal Article
LanguageJapanese
Published 一般社団法人　日本不整脈心電学会 25.01.2005
日本心電学会
Subjects
Andersen (Andersen-Tawil) 症候群
Brugada症候群
QT延長症候群
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ISSN0285-1660
1884-2437
DOI10.5105/jse.25.13

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Abstract チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である.QT延長症候群・Brugada症候群などは遺伝子異常・機能異常の解析が進んでいるが, 新たな展開として, 細胞骨格蛋白をコードするankyrin-Bの変異で細胞内Ca2+動態異常を主体とするQT延長症候群, KCNJ2 (Kir2.1) の変異でAndersen (Andersen-Tawil) 症候群, Ca2+チャネルをコードするCACNA1Aの変異でTimothy症候群がもたらされることが明らかとなった.Romano-Ward症候群3型 (LQT3) , Brugada症候群, 家族性洞不全症候群はいずれもSCN5Aの変異により起こることから, Na+チヤネル病とよばれる.また, その他のチャネル病の間にも, 変異遺伝子・表現型にオーバーラップがみられる (overlap syndrome) .
AbstractList チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である. QT延長症候群・Brugada症候群などは遺伝子異常・機能異常の解析が進んでいるが, 新たな展開として, 細胞骨格蛋白をコードするankyrin-Bの変異で細胞内Ca2+動態異常を主体とするQT延長症候群, KCNJ2(Kir2.1)の変異でAndersen(Andersen-Tawil)症候群, Ca2+チャネルをコードするCACNA1Aの変異でTimothy症候群がもたらされることが明らかとなった. Romano-Ward症候群3型(LQT3), Brugada症候群, 家族性洞不全症候群はいずれもSCN5Aの変異により起こることから, Na+チャネル病とよばれる. また, その他のチャネル病の間にも, 変異遺伝子・表現型にオーバーラップがみられる(overlap syndrome). 「I. はじめに」 単一チャネル遺伝子の異常によりもたらされる疾患をチャネル病(channelopathy)と定義するが, 心臓のチャネル病の多くは先天性不整脈疾患をきたし, 特に若年者の突然死の重要な原因となることから, 最近この領域の研究が精力的に行われている. そのなかで, (1)特に重要と考えられる事柄, (2)比較的新しい知見, (3)解釈の難しい概念, に焦点を絞り2回に分けて概説する. 第1回目はチャネル病の表現型・分類など一般的で比較的臨床に近い事柄を, 第2回目はチャネル病の病態発現のメカニズムなど専門的かつ基礎的事柄に関して説明する.
チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である.QT延長症候群・Brugada症候群などは遺伝子異常・機能異常の解析が進んでいるが, 新たな展開として, 細胞骨格蛋白をコードするankyrin-Bの変異で細胞内Ca2+動態異常を主体とするQT延長症候群, KCNJ2 (Kir2.1) の変異でAndersen (Andersen-Tawil) 症候群, Ca2+チャネルをコードするCACNA1Aの変異でTimothy症候群がもたらされることが明らかとなった.Romano-Ward症候群3型 (LQT3) , Brugada症候群, 家族性洞不全症候群はいずれもSCN5Aの変異により起こることから, Na+チヤネル病とよばれる.また, その他のチャネル病の間にも, 変異遺伝子・表現型にオーバーラップがみられる (overlap syndrome) .
Author 古川, 哲史
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Snippet チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である.QT延長症候群・Brugada症候...
チャネル病は単一チャネル遺伝子の異常によりもたらされる疾患であり, 遺伝病の約4%をチャネル病が占め, そのうちの約40%が循環器系疾患である. QT延長症候群・Brugada症...
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SubjectTerms Andersen (Andersen-Tawil) 症候群
Brugada症候群
QT延長症候群
Title チャネル病 (前篇)
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