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Gain-of-function KCNH2 mutations in patients with Brugada syndrome

Gain-of-function KCNH2 mutations in patients with Brugada syndrome
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Role of the R1135H KCNH2 mutation in Brugada syndrome

International Journal of Cardiology, 2010
Abstract Recently, a novel mutation, R1135H, in KCNH2 , the gene encoding the α-subunit of the rapid delayed rectifier K + channel ( I Kr ), has been identified in a patient with short QT interval as well as Brugada-type ECG. Voltage clamp experiments revealed larger tail currents and slowed deactivation of mutant I Kr channels.
Ronald Wilders, Arie Verkerk
exaly   +3 more sources

A novel KCNH2 mutation as a modifier for short QT interval

International Journal of Cardiology, 2009
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 'I(Kr)' channels.
Takashi Ashihara, Yuko Nakazawa, Tomoko Sakaguchi   +2 more
exaly   +2 more sources

Identification and expression analysis of kcnh2 genes in the zebrafish

Biochemical and Biophysical Research Communications, 2010
Long QT syndrome is a disorder that is characterised by a prolonged QT-interval and can lead to fatal cardiac arrhythmias. Many animal models have been created to study congenital long QT syndrome. Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing ...
Ivone Un San, Leong, Jonathan R, Skinner, Andrew N, Shelling, Donald R, Love   +3 more
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Expression and function of KCNH2 (HERG) in the human jejunum

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2003
Previous studies suggest that ether-a-go-go related gene (ERG) KCNH2 potassium channels contribute to the control of motility patterns in the gastrointestinal tract of animal models. The present study examines whether these results can be translated into a role in human gastrointestinal muscles.
Farrelly, A. M., Ro, S., Callaghan, B. P., Khoyi, M. A., Fleming, N., Horowitz, B., Sanders, K. M., Keef, K. D.   +7 more
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TheKCNH2gene is associated with neurocognition and the risk of schizophrenia

The World Journal of Biological Psychiatry, 2011
A genetic variant (rs3800779; M30) in the KCNH2 gene has been associated with schizophrenia, a lower intelligence quotient (IQ) and processing speed scores, altered brain functions and increased KCNH2-3.1. mRNA levels in the hippocampus. The aims of this study were to investigate whether the KCNH2 polymorphism is associated with schizophrenia-related ...
Ryota, Hashimoto, Kazutaka, Ohi, Yuka, Yasuda, Motoyuki, Fukumoto, Hidenaga, Yamamori, Kouzin, Kamino, Takashi, Morihara, Masao, Iwase, Hiroaki, Kazui, Masatoshi, Takeda   +9 more
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Congenital long QT syndrome with compound mutations in the KCNH2 gene

Heart and Vessels, 2013
Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography.
Sachiko, Bando, Takeshi, Soeki, Tomomi, Matsuura, Toshiyuki, Niki, Takayuki, Ise, Koji, Yamaguchi, Yoshio, Taketani, Takashi, Iwase, Hirotsugu, Yamada, Tetsuzo, Wakatsuki, Masashi, Akaike, Takeshi, Aiba, Wataru, Shimizu, Masataka, Sata   +13 more
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KCNH2 polymorphism and methadone dosage interact to enhance QT duration

Drug and Alcohol Dependence, 2014
Many drugs increase the duration of the QT interval of patients, potentially leading to harmful effects such as polymorphic ventricular arrhythmias. Most of these drugs do so by inhibiting the rapid component IKr of the delayed rectifier potassium current IK.
Aline, Hajj, Kamilia, Ksouda, Katell, Peoc'h, Emmanuel, Curis, Anne, Messali, Laurence Labat, Deveaux, Vanessa, Bloch, Nathalie, Prince, Stéphane, Mouly, Jean-Michel, Scherrmann, Jean-Pierre, Lépine, Jean-Louis, Laplanche, Milou-Daniel, Drici, Florence, Vorspan   +13 more
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Short QT Syndrome and Atrial Fibrillation Caused by Mutation in KCNH2

Journal of Cardiovascular Electrophysiology, 2005
Background: The short QT syndrome is a newly described clinical entity characterized by the presence of a short QT interval associated with cardiac tachyarrhythmias including sudden cardiac death at a young age in otherwise healthy individuals. A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a ...
Kui, Hong, Preben, Bjerregaard, Ihor, Gussak, Ramon, Brugada   +3 more
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Gain‐of‐Function KCNH2 Mutations in Patients with Brugada Syndrome

Journal of Cardiovascular Electrophysiology, 2014
Novel KCNH2 Mutations in Brugada SyndromeBackgroundBrugada syndrome (BrS) is an inherited disease characterized by right precordial ST segment elevation on electrocardiograms (ECGs) that predisposes patients to sudden cardiac death as a result of polymorphic ventricular tachyarrhythmia or ventricular fibrillation (VF). In BrS patients, except for SCN5A,
Q I, Wang, Seiko, Ohno, Wei-Guang, Ding, Megumi, Fukuyama, Akashi, Miyamoto, Hideki, Itoh, Takeru, Makiyama, Jie, Wu, Jiayu, Bai, Kanae, Hasegawa, Tetsuji, Shinohara, Naohiko, Takahashi, Akihiko, Shimizu, Hiroshi, Matsuura, Minoru, Horie   +14 more
openaire   +2 more sources