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High Throughput Single-cell and Multiple-cell Micro-encapsulation
Published on: June 15, 2012
SCN5Aポリモルフィズムは,別々の遺伝子上のブルガダ症候群変異の密輸を復元する
Steven Poelzing1, Cinzia Forleo, Melissa Samodell
1Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Dr, Rammelkamp 658, Cleveland, OH 44109-1998, USA.
Circulation
|July 26, 2006
まとめ
遺伝子ポリモルフィズムは,ブルガダ症候群の変異を救えるかもしれない. 常見のH558R-SCN5Aポリモルフィズムが,心臓のナトリウムチャネルにおけるR282H-SCN5A変異を救うことが発見され,不完全な疾患の浸透を説明しました.
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
- チャネル病変は,チャネル病変である.
背景:
- ブルガダ症候群 (Brugada syndrome) は遺伝的疾患で,突然の心臓発作による死亡のリスクが高くなります.
- これは,心臓のナトリウムチャネルをコードするSCN5A遺伝子の変異と関連しています.
- R282H-SCN5A変異は以前,ブルガダ症候群の患者で確認されていた.
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