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プラコフィリン-2におけるミッセンスの変異は,ナトリウム電流の不足を引き起こし,ブルガダ症候群の現象型と関連しています

Marina Cerrone1, Xianming Lin, Mingliang Zhang

  • 1Leon H. Charney Division of Cardiology (M.C., X.L., M.Z., E.A.-P., A.P., H.C.G., S.P., M.D.), and Cardiovascular Genetics Program (M.C., S.P.), NYU School of Medicine, New York, NY; Molecular Cardiology, Maugeri Foundation, Pavia, Italy (V.N., C.N., S.P.); Del E. Webb Center for Neuroscience, Aging & Stem Cell Research, Sanford-Burnham Medical Research Institute, La Jolla, CA (C.K., T.T., H.-S.V.C.); Department of Bioscience and Biotechnology, Sejong University, Seoul, Korea (C.K.); Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD (D.P.J.); and Department of Pharmacology, NYU School of Medicine, New York, NY (E.R.).

Circulation
|December 20, 2013
PubMed
まとめ

プラコフィリン-2 (PKP2) の遺伝的変異は,ナトリウムチャネル機能を低下させ,ブルガダ症候群 (BrS) を引き起こす可能性があります. この研究は,PKP2変異をBrSと関連付けていますが,不律性心筋症の特徴はありません.

キーワード:
ブルガダ症候群 (ブルガダ症候群) とは,ブルガダ症候群 (ブルガダ症候群) を意味する.アリトモジェニック右心室不形成症-心筋症候群デスマソームはデスマソームである.プラコフィリン2 2ナトリウムチャネルとは

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