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尺寸很重要:Nav1.7 中的红斑性肢痛症突变 S241T 改变通道门控。

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.

作者信息

Lampert Angelika, Dib-Hajj Sulayman D, Tyrrell Lynda, Waxman Stephen G

机构信息

Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

出版信息

J Biol Chem. 2006 Nov 24;281(47):36029-35. doi: 10.1074/jbc.M607637200. Epub 2006 Sep 28.

Abstract

The Nav1.7 sodium channel is preferentially expressed in most nociceptive dorsal root ganglion neurons and in sympathetic neurons. Inherited erythromelalgia (IEM, also known as erythermalgia), an autosomal dominant neuropathy characterized by burning pain in the extremities in response to mild warmth, has been linked to mutations in Nav1.7. Recently, a substitution of Ser-241 by threonine (S241T) in the domain I S4-S5 linker of Nav1.7 was identified in a family with IEM. To investigate the possible causative role of this mutation in the pathophysiology of IEM, we used whole-cell voltage-clamp analysis to study the effects of S241T on Nav1.7 gating in HEK293 cells. We found a hyperpolarizing shift of activation midpoint by 8.4 mV, an accelerated time to peak, slowing of deactivation, and an increase in the current in response to small, slow depolarizations. Additionally, S241T produced an enhancement of slow inactivation, shifting the midpoint by -12.3 mV. Because serine and threonine have similar biochemical properties, the S241T substitution suggested that the size of the side chain at this position affected channel gating. To test this hypothesis, we investigated the effect of S241A and S241L substitutions on the gating properties of Nav1.7. Although S241A did not alter the properties of the channel, S241L mimicked the effects of S241T. We conclude that the linker between S4 and S5 in domain I of Nav1.7 modulates gating of this channel, and that a larger side chain at position 241 interferes with its gating mechanisms.

摘要

Nav1.7钠通道在大多数伤害性背根神经节神经元和交感神经元中优先表达。遗传性红斑性肢痛症(IEM,也称为红斑性肢痛)是一种常染色体显性神经病变,其特征为肢体在受到轻微温热刺激时出现灼痛,该病已与Nav1.7的突变相关联。最近,在一个患有IEM的家族中,发现Nav1.7的结构域I S4-S5连接子中的丝氨酸241被苏氨酸替代(S241T)。为了研究该突变在IEM病理生理学中的可能致病作用,我们使用全细胞膜片钳分析来研究S241T对HEK293细胞中Nav1.7门控的影响。我们发现激活中点发生超极化偏移8.4 mV,达到峰值的时间加快,失活减慢,并且对小的、缓慢的去极化反应时电流增加。此外,S241T使慢失活增强,中点偏移-12.3 mV。由于丝氨酸和苏氨酸具有相似的生化特性,S241T替代表明该位置侧链的大小影响通道门控。为了验证这一假设,我们研究了S241A和S241L替代对Nav1.7门控特性的影响。虽然S241A没有改变通道特性,但S241L模拟了S241T的作用。我们得出结论,Nav1.7结构域I中S4和S5之间的连接子调节该通道的门控,并且241位的较大侧链干扰其门控机制。

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