Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen B W, Chen K L, Wang S, Ben Othman K, Cullen B, Leach R J, Hanemann C O
Laboratory of Neurogenetics, Born Bunge Foundation, University of Antwerp, Belgium.
Nat Genet. 1992 Jun;1(3):171-5. doi: 10.1038/ng0692-171.
Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.
夏科-马里-图思病（CMT1）是遗传性周围神经病最常见的类型。尽管该疾病在遗传上具有异质性，但已证实最常见的基因缺陷类型（CMT1A）是17p11.2带部分重复的结果。最近的研究表明，震颤小鼠（Tr）的周围髓鞘形成不足综合征可能是CMT1疾病的动物模型，它与周围髓鞘蛋白-22基因（pmp-22）的点突变有关。pmp-22在施万细胞中表达特别高，该蛋白存在于周围髓鞘中。我们现在报告人类PMP-22基因包含在CMT1A重复区域内。因此，我们认为PMP-22基因剂量增加可能是CMT1A神经病的病因。
