婴儿严重肌阵挛癫痫小鼠模型中GABA能中间神经元的钠电流降低。

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.

作者信息

Yu Frank H, Mantegazza Massimo, Westenbroek Ruth E, Robbins Carol A, Kalume Franck, Burton Kimberly A, Spain William J, McKnight G Stanley, Scheuer Todd, Catterall William A

机构信息

Department of Pharmacology, University of Washington, Seattle, Washington 98195-7280, USA.

出版信息

Nat Neurosci. 2006 Sep;9(9):1142-9. doi: 10.1038/nn1754. Epub 2006 Aug 20.

Abstract

Voltage-gated sodium channels (Na(V)) are critical for initiation of action potentials. Heterozygous loss-of-function mutations in Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI). Homozygous null Scn1a-/- mice developed ataxia and died on postnatal day (P) 15 but could be sustained to P17.5 with manual feeding. Heterozygous Scn1a+/- mice had spontaneous seizures and sporadic deaths beginning after P21, with a notable dependence on genetic background. Loss of Na(V)1.1 did not change voltage-dependent activation or inactivation of sodium channels in hippocampal neurons. The sodium current density was, however, substantially reduced in inhibitory interneurons of Scn1a+/- and Scn1a-/- mice but not in their excitatory pyramidal neurons. An immunocytochemical survey also showed a specific upregulation of Na(V)1.3 channels in a subset of hippocampal interneurons. Our results indicate that reduced sodium currents in GABAergic inhibitory interneurons in Scn1a+/- heterozygotes may cause the hyperexcitability that leads to epilepsy in patients with SMEI.

摘要

电压门控钠通道(Na(V))对于动作电位的起始至关重要。Na(V)1.1通道的杂合功能丧失突变会导致婴儿严重肌阵挛性癫痫(SMEI)。纯合缺失Scn1a-/-小鼠出现共济失调,并在出生后第15天死亡,但通过人工喂养可维持到出生后第17.5天。杂合Scn1a+/-小鼠在出生后第21天开始出现自发性癫痫发作和散发性死亡,且明显依赖于遗传背景。Na(V)1.1的缺失并未改变海马神经元中钠通道的电压依赖性激活或失活。然而,Scn1a+/-和Scn1a-/-小鼠的抑制性中间神经元中的钠电流密度显著降低,但其兴奋性锥体神经元中则未降低。免疫细胞化学研究还显示,海马中间神经元的一个亚群中Na(V)1.3通道有特异性上调。我们的结果表明,Scn1a+/-杂合子中GABA能抑制性中间神经元的钠电流减少可能导致导致SMEI患者癫痫发作的过度兴奋性。

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