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