Snipes G J, Orfali W
Centre for Neuronal Survival and Division of Neuropathology, McGill University, Montreal, Quebec, Canada.
Cell Biol Int. 1998 Nov;22(11-12):815-35. doi: 10.1006/cbir.1998.0389.
After a century of study, mutations in connexin32, peripheral myelin protein22, and protein zero are now known to culminate in the prototypical phenotype of Charcot-Marie-Tooth disease. Many of these mutations have been modeled in rodents and in tissue culture. Consequently, structure-function predictions for these mutations are now possible and detailed analyses of many of them are ongoing. Despite the marked differences in the functions of these three proteins, it is profitable to consider the many similarities between them, including the types of mutational mechanisms and their effects on myelin structure and function. Accordingly, the biology and genetics of Charcot-Marie-Tooth disease and other inherited peripheral neuropathies due to mutations in these proteins are reviewed.
经过一个世纪的研究，现已明确连接蛋白32、外周髓鞘蛋白22和蛋白零的突变最终会导致夏科-马里-图斯病的典型表型。其中许多突变已在啮齿动物和组织培养中得到建模。因此，现在可以对这些突变进行结构-功能预测，并且对其中许多突变的详细分析正在进行中。尽管这三种蛋白质的功能存在显著差异，但考虑它们之间的诸多相似之处是有益的，包括突变机制的类型及其对髓鞘结构和功能的影响。因此，本文对因这些蛋白质突变导致的夏科-马里-图斯病和其他遗传性周围神经病的生物学和遗传学进行综述。
