Allagnat Florent, Krattinger Nathalie, Nicod Pascal, Meda Paolo, Haefliger Jacques-Antoine
Faculté de biologie et médecine, Département de médecine interne, Laboratoire de biologie moléculaire CHUV, 1011 Lausanne.
Rev Med Suisse. 2005 Apr 27;1(17):1126-30, 1132-3.
Gap junctions are highly conserved structures that provide cells with a direct pathway for sharing ions, nutrients and other intracellular messengers, thus participating to the homeostasis of various tissues. Research on transgenic mice has revealed a major involvement of gap junctions proteins (connexins) in several cellular functions. At the same time, an increasing number of mutations of connexin genes has been linked to several hereditary diseases, including peripheral neuropathies, skin diseases, genetic deafness, cataracts and some forms of epilepsy. This review summarizes the state of knowledge about the implication of connexins in human pathologies.
间隙连接是高度保守的结构,为细胞提供了一条直接途径,用于共享离子、营养物质和其他细胞内信使,从而参与各种组织的内环境稳定。对转基因小鼠的研究表明,间隙连接蛋白(连接蛋白)在多种细胞功能中起主要作用。与此同时,越来越多的连接蛋白基因突变与几种遗传性疾病有关,包括周围神经病变、皮肤病、遗传性耳聋、白内障和某些形式的癫痫。本综述总结了关于连接蛋白在人类疾病中的作用的知识现状。