耳部、皮肤和晶状体的连接蛋白疾病。

Connexin disorders of the ear, skin, and lens.

作者信息

Gerido Dwan A, White Thomas W

机构信息

Department of Physiology and Biophysics, State University of New York, T5-147, Basic Science Tower, Stony Brook, NY 11794-8661, USA.

出版信息

Biochim Biophys Acta. 2004 Mar 23;1662(1-2):159-70. doi: 10.1016/j.bbamem.2003.10.017.

DOI:10.1016/j.bbamem.2003.10.017

PMID:15033586

Abstract

Gap junctions provide coupled cells with a direct pathway for sharing ions, nutrients, and small metabolites, thus helping to maintain homeostasis in various tissues. Abnormal function and/or expression of specific connexin genes has been linked to several diseases, including genetic deafness, skin disease, peripheral neuropathies, and cataracts. Research has provided significant insight into the function of gap junction proteins in both in vitro and in vivo models; however, questions regarding the exact mechanisms by which connexin related diseases occur in mammalian systems remain. Here, we discuss the disease states that are related to three human connexin genes, Cx26 (GJB2), Cx46 (GJA3) and Cx50 (GJA8), and recent scientific evidence characterizing those diseases in various experimental models.

摘要

缝隙连接为耦合细胞提供了一条直接途径，用于共享离子、营养物质和小分子代谢物，从而有助于维持各种组织中的内环境稳定。特定连接蛋白基因的功能异常和/或表达异常与多种疾病有关，包括遗传性耳聋、皮肤病、周围神经病变和白内障。研究已经在体外和体内模型中对缝隙连接蛋白的功能有了重要的认识；然而，关于连接蛋白相关疾病在哺乳动物系统中发生的确切机制仍然存在疑问。在这里，我们讨论与三种人类连接蛋白基因Cx26（GJB2）、Cx46（GJA3）和Cx50（GJA8）相关的疾病状态，以及在各种实验模型中表征这些疾病的最新科学证据。