A novel KCNH2 mutation as a modifier for short QT interval

Abstract In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for...

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Veröffentlicht in:	International journal of cardiology 2009-09, Vol.137 (1), p.83-85
Hauptverfasser:	Itoh, Hideki, Sakaguchi, Tomoko, Ashihara, Takashi, Ding, Wei-Guang, Nagaoka, Iori, Oka, Yuko, Nakazawa, Yuko, Yao, Takenori, Jo, Hikari, Ito, Makoto, Nakamura, Kazufumi, Ohe, Tohru, Matsuura, Hiroshi, Horie, Minoru
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Animals Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - genetics Arrhythmias, Cardiac - physiopathology Biological and medical sciences Brugada syndrome Brugada Syndrome - diagnosis Brugada Syndrome - genetics Brugada Syndrome - physiopathology Cardiac dysrhythmias Cardiology. Vascular system Cardiovascular CHO Cells Cricetinae Cricetulus Emergency and intensive care: neonates and children. Prematurity. Sudden death ERG1 Potassium Channel Ether-A-Go-Go Potassium Channels - genetics Heart Humans Intensive care medicine KCNH2 Male Medical sciences Mutation Mutation - genetics Pedigree Short QT syndrome Sudden death
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Zusammenfassung:	Abstract In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted ‘ IKr ’ channels. This mutation could modify clinical phenotypes for this patient.
ISSN:	0167-5273 1874-1754
DOI:	10.1016/j.ijcard.2008.05.050