Hanemann C O, Müller H W
Dept of Neurology, Heinrich-Heine-University, Düsseldorf, Germany.
Trends Neurosci. 1998 Jul;21(7):282-6. doi: 10.1016/s0166-2236(97)01222-8.
The hereditary neuropathy Charcot-Marie-Tooth (CMT) type 1A is, in the majority of cases, caused by duplication of the gene for the peripheral myelin protein PMP22, which leads to abnormally increased PMP22 expression. Recent in vitro and in vivo data indicate a novel function of PMP22 in Schwann-cell growth and differentiation other than its role in myelination, and suggest that overproduction of PMP22 leads to a new Schwann-cell phenotype in CMT1A. Taking these data into account, we developed a new hypothesis on the pathogenesis of CMT1A neuropathy: that the defective myelin stability and turnover observed in the disease is caused by altered PMP22 gene dosage and its resultant effect on abnormal Schwann-cell growth and differentiation.
遗传性神经病夏科-马里-图斯病（CMT）1A型在大多数情况下是由外周髓磷脂蛋白PMP22基因的重复引起的，这导致PMP22表达异常增加。最近的体外和体内数据表明，PMP22除了在髓鞘形成中发挥作用外，在施万细胞生长和分化中具有新功能，并且提示PMP22的过量产生导致CMT1A型中出现新的施万细胞表型。考虑到这些数据，我们对CMT1A型神经病的发病机制提出了一个新假说：即该疾病中观察到的髓鞘稳定性和更新缺陷是由PMP22基因剂量改变及其对施万细胞异常生长和分化的影响所导致的。
