新医学2023，Vol.54Issue(12)：849-854,6.DOI:10.3969/j.issn.0253-9802.2023.12.002
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 in α-dystroglycanopathy
摘要
Abstract
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 in α-dystroglycan(α-DG)O-glycosylation.As one of the causative genes of α-DGP,POMT1 gene is usually closely correlated with clinical phenotype of α-DGP with severe symptoms and poor prognosis.In this article,clinical diagnosis and treatment,genotype-phenotype relationship,and possible pathogenesis of α-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-related α-DGP.关键词
先天畸形/沃克-沃伯格综合征/蛋白O-甘露糖基转移酶1基因/α-抗肌萎缩相关糖蛋白病/蛋白O-甘露糖基转移酶/基因型-表型关系Key words
Congenital abnormality/Walker-Warburg syndrome/POMT1 gene/α-dystroglycanopathy/Protein O-mannosyl-transferase/Genotype-phenotype relationship引用本文复制引用
石润茜,徐盈,常媛媛,张建芳..POMT1基因变异在α-抗肌萎缩相关糖蛋白病中的研究进展[J].新医学,2023,54(12):849-854,6.基金项目
陕西省自然科学基础研究计划(2022JQ-977) （2022JQ-977）
陕西省重点研发计划(2019ZDLSF01-06) （2019ZDLSF01-06）
西安市科技计划项目(20YXYJ0009-7) （20YXYJ0009-7）
