What's the Function of Connexin 32 in the Peripheral Nervous System?
What's the Function of Connexin 32 in the Peripheral Nervous System?
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DOI：
10.3389/fnmol.2018.00227
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发表时间：
2018
影响因子：
4.8
通讯作者：
Bortolozzi M
中科院分区：
文献类型：
--
作者：
Bortolozzi M
间隙连接蛋白32(Cx32)是周围神经系统(PNS)中的一种基本蛋白质，因为它的突变会导致X连锁形式的Charcot-Marie-Tooth病(CMT1X)，这是第二种最常见的遗传性运动和感觉神经病，也是一种脱髓鞘疾病，目前还没有有效的治疗方法。自1993年首次报道编码Cx32的GJB1基因突变以来，已鉴定出450多种与CMT1X相关的不同突变，包括错义突变、移码突变、缺失突变和无义突变。尽管已有相当数量的研究集中在正常和突变的Cx32通道特性上，但Cx32在PNS中发挥的关键作用以及CMT1X的分子发病机制尚未阐明。Cx32在雪旺细胞(SC)生命的特定阶段是基本的吗？有髓干细胞中的Cx32通道配对(缝隙连接，GJ)对周围神经稳态重要吗？虽然越来越多的证据支持Cx32在PNS中的其他可能功能，主要与Cx32不成对的通道(半通道)有关，这可能与控制髓鞘形成的嘌呤能依赖的途径有关，但Cx32 GJS对相邻髓鞘层的短连接是K+和信号分子有效扩散所必需的，这一假说仍然存在争议。在这里，我们回顾了关于Cx32功能和功能障碍的有趣的发现之谜，讨论了未来可能的研究方向。
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot–Marie–Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating disease for which there is no effective therapy. Since mutations of the GJB1 gene encoding Cx32 were first reported in 1993, over 450 different mutations associated with CMT1X including missense, frameshift, deletion and non-sense ones have been identified. Despite the availability of a sizable number of studies focusing on normal and mutated Cx32 channel properties, the crucial role played by Cx32 in the PNS has not yet been elucidated, as well as the molecular pathogenesis of CMT1X. Is Cx32 fundamental during a particular phase of Schwann cell (SC) life? Are Cx32 paired (gap junction, GJ) channels in myelinated SCs important for peripheral nerve homeostasis? The attractive hypothesis that short coupling of adjacent myelin layers by Cx32 GJs is required for efficient diffusion of K+ and signaling molecules is still debated, while a growing body of evidence is supporting other possible functions of Cx32 in the PNS, mainly related to Cx32 unpaired channels (hemichannels), which could be involved in a purinergic-dependent pathway controlling myelination. Here we review the intriguing puzzle of findings about Cx32 function and dysfunction, discussing possible directions for future investigation.
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影响因子：
7.3
作者：
Fields RD;Ni Y
通讯作者：
Ni Y
影响因子：
2.9
作者：
Abrams, CK;Freidin, MM;Bargiello, TA
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DOI：
10.1073/pnas.261713499
发表时间：
2002-03-19
影响因子：
11.1
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1999-07-01
影响因子：
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通讯作者：
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影响因子：
4.8
作者：
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通讯作者：
Freidin, Mona M.