Paul D L
Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Curr Opin Cell Biol. 1995 Oct;7(5):665-72. doi: 10.1016/0955-0674(95)80108-1.
The most significant finding of the past year in gap junction research has been the association of connexin defects with human diseases. Connexin32 mutations cause X-linked Charcot-Marie-Tooth disease, a demyelinating peripheral neuropathy. Mutations in connexin43 may underlie cardiac malformations in visceroatrial heterotaxia syndromes. Genetic approaches and gene targeting have provided new insights, but also raise new questions concerning connexin function, the significance of connexin diversity and the regulation of intercellular communication.
过去一年间隙连接研究中最重要的发现是连接蛋白缺陷与人类疾病的关联。连接蛋白32突变导致X连锁型夏科-马里-图斯病,这是一种脱髓鞘性周围神经病变。连接蛋白43的突变可能是内脏心房异位综合征中心脏畸形的潜在原因。遗传学方法和基因靶向技术提供了新的见解,但也引发了有关连接蛋白功能、连接蛋白多样性的意义以及细胞间通讯调节的新问题。