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Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
心臓ナトリウムチャネル (SCN5A) 変異は,心房細動と関連しています
Dawood Darbar1, Prince J Kannankeril, Brian S Donahue
1Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA. dawood.darbar@vanderbilt.edu
Circulation
|April 2, 2008
まとめ
心臓のナトリウムチャネルをコードするSCN5A遺伝子の遺伝的変異は,心房細動 (AF) と関連しています. この研究は,根本的な心臓病に関係なく,AFに個人を誘発する新しいSCN5A変異を特定しています.
科学分野:
- 心血管遺伝学 心血管遺伝学
- 分子心臓病学 分子心臓病学
- 電気生理学 電気生理学
背景:
- 心房細動 (AF) は,心律不全の一般的な症状である.
- 遺伝学的研究は,イオンチャネル遺伝子変異がAFの感受性に貢献することを示唆しています.
- SCN5A遺伝子は,心臓の電気活動において重要な役割を果たす心臓のナトリウムチャネルをコードする.
研究 の 目的:
- SCN5A遺伝子変異と心房細動 (AF) の関連性を調査する.
- SCN5Aの変異または稀な変異が,心疾患の有無にかかわらず,個人をAFに誘発するかどうかを決定する.
主な方法:
- 375人のAF患者 (単身AFおよび心疾患のAF) のSCN5Aコード領域全体の再シーケンシング.
- 特定されたSCN5A変種のための360の対照群のゲノタイプ化.
- 影響を受けた家族内の変種分離の分析.
主要な成果:
- 8つの新しいSCN5A変種が10の試験群 (2.7%) で特定され,コントロール群では存在しなかった (P=0.001).
- これらの新型変異は,高度に保存された残留物に影響し,6つのファミリーでAFとコセグレートします.
- 以前に他の心拍不全症候群と関連付けられていた11種類の稀なミスセンスの変種は,12人の試験対象者 (3.2%) で発見されました.
結論:
- SCN5A変異または希少な変異は,心臓病のある患者またはない患者のAFに対する感受性を増加させる可能性があります.
- この研究は,SCN5Aチャネル病変の臨床スペクトルを拡張し,AFを含むようにしています.
- 発見は,AF患者の標的治療のための分子フェノタイプ化を支持しています.
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