Voltage-Gated Sodium Channel β Subunits and Their Related Diseases
Voltage-Gated Sodium Channel β Subunits and Their Related Diseases
复制标题
DOI：
10.1007/164_2017_48
复制
发表时间：
2018-01-01
期刊：
影响因子：
--
通讯作者：
Isom, Lori L.
中科院分区：
文献类型：
--
作者：
Bouza, Alexandra A.;Isom, Lori L.
电压门控钠通道是一种蛋白质复合物，由一个形成亚基的孔和两个非孔形成的β亚基组成。电压门控钠通道β亚基最初被确定为辅助亚基，调节离子通道孔的门控、动力学和定位。从那时起，五个β亚基已被证明作为多功能信号分子发挥着至关重要的作用，涉及细胞粘附、细胞迁移、神经元寻路、束颤和神经突生长。在这里，我们概述了涉及 β 亚基传导和非传导作用的证据。 β 亚基基因 (SCN1B-SCN4B) 的突变与多种疾病有关。这些包括癌症、癫痫、心律失常、婴儿猝死综合症/癫痫意外死亡、神经性疼痛和多种神经退行性疾病。因此，β亚基为未来的药物发现提供了新的治疗靶点。
Voltage-gated sodium channels are protein complexes comprised of one pore forming a subunit and two, non-pore forming, beta subunits. The voltage-gated sodium channel beta subunits were originally identified to function as auxiliary subunits, which modulate the gating, kinetics, and localization of the ion channel pore. Since that time, the five beta subunits have been shown to play crucial roles as multifunctional signaling molecules involved in cell adhesion, cell migration, neuronal pathfinding, fasciculation, and neurite outgrowth. Here, we provide an overview of the evidence implicating the beta subunits in their conducting and non-conducting roles. Mutations in the beta subunit genes (SCN1B-SCN4B) have been linked to a variety of diseases. These include cancer, epilepsy, cardiac arrhythmias, sudden infant death syndrome/sudden unexpected death in epilepsy, neuropathic pain, and multiple neurodegenerative disorders. beta subunits thus provide novel therapeutic targets for future drug discovery.