Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y
Department of Pediatrics, Akita University School of Medicine, Japan.
Biochem Biophys Res Commun. 1993 Aug 16;194(3):1317-22. doi: 10.1006/bbrc.1993.1968.
We had previously reported that the myelin P0 gene was responsible for Charcot-Marie-Tooth neuropathy type 1B (CMT1B). In this study we found a different mutation of the P0 gene in a family of Charcot-Marie-Tooth neuropathy type 1 without a DNA duplication in chromosome 17p11.2. The mutation, a histidine substitution for arginine at amino acid position 98, is located in the extracellular domain of P0 like as the mutations in the three pedigrees with CMT1B. The extracellular domain forms an immunoglobulin domain responsible for the function of P0 as an adhesion molecule. Alterations in the tertiary structure of the extracellular domain of P0 would modify the function of P0, resulting in an impairment of peripheral myelin compaction.
我们之前曾报道，髓磷脂P0基因与1B型腓骨肌萎缩症（CMT1B）有关。在本研究中，我们在一个17p11.2染色体无DNA重复的1型腓骨肌萎缩症家族中发现了P0基因的一个不同突变。该突变是氨基酸位置98处的组氨酸替代精氨酸，与三个CMT1B家系中的突变一样，位于P0的细胞外结构域。细胞外结构域形成一个免疫球蛋白结构域，负责P0作为粘附分子的功能。P0细胞外结构域三级结构的改变会改变P0的功能，导致周围髓鞘紧密化受损。
