MUT型甲基丙二酸血症基因治疗研究进展  

Research progress in gene therapy for MUT-type methylmalonic acidemia

作　　者：丁一(综述) 于玥(综述) 韩连书(审校)[1] DING Yi;YU Yue;HAN Lianshu(Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院/上海市儿科医学研究所儿内分泌遗传代谢科,上海200092

出　　处：《临床儿科杂志》2024年第12期1051-1055,共5页Journal of Clinical Pediatrics

摘　　要：MUT型甲基丙二酸血症(MMA)是由MMUT基因变异引起的常染色体隐性遗传病,可涉及多脏器损害,以脑损伤为主,死亡率较高。MUT型MMA目前治疗主要包括饮食治疗、左卡尼汀及维生素B12药物治疗,部分严重患者需要肝肾移植,但上述治疗效果不佳,患者预后较差。近几年,在MUT型MMA小鼠模型中已利用腺病毒载体、慢病毒载体、基因编辑、mRNA非病毒载体进行基因治疗及Ⅰ/Ⅱ期临床试验。目前相关临床试验尚处于研发早期,基因治疗有望成为MUT型MMA新治疗方法。文章对MUT型MMA基因治疗研究现状进行系统总结,为后续研究提供参考。MUT-type methylmalonic acidemia(MMA)is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene,which can involve multiple organ damage,mainly brain damage,and has a high mortality rate.Diet therapy,levocarnitine and vitamin B12 therapy are the main treatment method for MUT-type MMA,and some severe patients need liver and kidney transplantation,but the treatment effect and prognosis are poor.Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway.Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method.This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.

关 键 词：甲基丙二酸血症 MMUT基因 基因治疗 

分 类 号：R394[医药卫生—医学遗传学]