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人类松弛钾通道突变增加了单个通道之间的正协同性。

Human slack potassium channel mutations increase positive cooperativity between individual channels.

作者信息

Kim Grace E, Kronengold Jack, Barcia Giulia, Quraishi Imran H, Martin Hilary C, Blair Edward, Taylor Jenny C, Dulac Olivier, Colleaux Laurence, Nabbout Rima, Kaczmarek Leonard K

机构信息

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA.

出版信息

Cell Rep. 2014 Dec 11;9(5):1661-1672. doi: 10.1016/j.celrep.2014.11.015. Epub 2014 Dec 4.

Abstract

Disease-causing mutations in ion channels generally alter intrinsic gating properties such as activation, inactivation, and voltage dependence. We examined nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel that give rise to three distinct forms of epilepsy. All produced many-fold increases in current amplitude compared to the wild-type channel. This could not be accounted for by increases in the intrinsic open probability of individual channels. Rather, greatly increased opening was a consequence of cooperative interactions between multiple channels in a patch. The degree of cooperative gating was much greater for all of the mutant channels than for the wild-type channel, and could explain increases in current even in a mutant with reduced unitary conductance. We also found that the same mutation gave rise to different forms of epilepsy in different individuals. Our findings indicate that a major consequence of these mutations is to alter channel-channel interactions.

摘要

离子通道中的致病突变通常会改变内在门控特性,如激活、失活和电压依赖性。我们研究了导致三种不同形式癫痫的KCNT1(Slack)钠激活钾通道的九种不同突变。与野生型通道相比,所有突变均使电流幅度增加了许多倍。这不能用单个通道内在开放概率的增加来解释。相反,开放的大幅增加是膜片中多个通道之间协同相互作用的结果。所有突变通道的协同门控程度都比野生型通道大得多,这甚至可以解释单通道电导降低的突变体中电流的增加。我们还发现,相同的突变在不同个体中会导致不同形式的癫痫。我们的研究结果表明,这些突变的一个主要后果是改变通道间的相互作用。

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