POMT1基因变异在α-抗肌萎缩相关糖蛋白病中的研究进展

Research progress on POMT1 gene variation inα-dystroglycanopathy

蛋白O-甘露糖基转移酶1(POMT1)基因编码的蛋白参与蛋白质O-甘露糖基化修饰起始步骤,在细胞连接、神经元迁移等多种生理过程发挥重要作用,α-抗肌萎缩相关糖蛋白病(α-DGP)是一组由α-抗肌萎缩相关糖蛋白(α-DG)O-糖基化缺陷所致的肌营养不良相关疾病。POMT1基因作为α-DGP的致病基因之一,通常与症状严重、预后差的α-DGP表型密切相关。该文对POMT1基因变异相关α-DGP的诊治、基因型-表型关系及可能的发病机制进行综述,以期深入探索POMT1变异的致病机制,为POMT1基因变异相关α-DGP的分子生物学水平治疗提供新思路。

Protein O-mannosyl-transferase 1(POMT1)gene-encoded protein participates in the initial step of protein O-mannosylation modification and plays an important role in various physiological processes,such as cell connection and neuronal migration,etc.α-dystroglycanopathy(α-DGP)is a group of muscular dystrophy-related diseases caused by defects inα-dystroglycan(α-DG)O-glycosylation.As one of the causative genes ofα-DGP,POMT1 gene is usually closely correlated with clinical phenotype ofα-DGP with severe symptoms and poor prognosis.In this article,clinical diagnosis and treatment,genotype-phenotype relationship,and possible pathogenesis ofα-DGP associated with POMT1 gene variation were reviewed,aiming to further explore the pathogenic mechanism of POMT1 variation and provide new ideas for the molecular biology-level treatment of POMT1 gene variation-relatedα-DGP.