NDLI: Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics

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Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics

Content Provider	Springer Nature Link
Author	Isbrandt, Dirk Friederich, Patrick Solth, Anna Haverkamp, Wilhelm Ebneth, Andreas Borggrefe, Martin Funke, Harald Sauter, Kathrin Breithardt, Günter Pongs, Olaf Schulze Bahr, Eric
Copyright Year	2002
Abstract	Long-QT syndrome (LQTS) may cause syncope and sudden death due to cardiac tachyarrhythmia. Chromosome 7-linked LQTS (LQT2) has been correlated with mutations in the human ether-a-go-go-related gene (HERG). HERG forms voltage-gated K channels that may be associated with Mink-related peptide 1 (MiRP1), an auxiliary β-subunit. The channels mediate currents that resemble native I Kr. Mutations in the KCNE2 gene encoding MiRP1 may also cause LQTS. In this study, the frequency of mutations in KCNE2 of 150 unrelated LQTS patients without known genotype and of 100 controls was analyzed using single-strand conformation polymorphism analysis and direct sequencing. We identified a novel missense mutation, V65 M, in the KCNE2 gene of a 17-year-old female with syncope and LQTS. Expression studies in Chinese hamster ovary cells revealed that mutant and wild-type MiRP1 co-localized with HERG subunits and formed functional channels. However, mutant HERG/MiRP1V65M channels mediated currents with an accelerated inactivation time course compared with wild-type channels. The accelerated inactivation time course of HERG/MiRP1V65M channels may decrease I Kr current density of myocardial cells, thereby impairing the ability of myocytes to repolarize in response to sudden membrane depolarizations such as extrasystoles.
Starting Page	524
Ending Page	532
Page Count	9
File Format	PDF
ISSN	09462716
Journal	Journal of Molecular Medicine
Volume Number	80
Issue Number	8
e-ISSN	14321440
Language	English
Publisher	Springer-Verlag
Publisher Date	2002-06-28
Publisher Place	Berlin/Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Molecular Medicine Human Genetics Internal Medicine
Content Type	Text
Resource Type	Article
Subject	Drug Discovery Molecular Medicine Genetics (clinical)

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