MECP2突变导致Rett综合征的发病机制及临床治疗研究进展
Advances in the pathogenesis and clinical treatment of Rett syndrome due to MECP2 mutation
王慧敏 1崔向荣 2胡先明2
作者信息
- 1. 山西医科大学儿科医学系,山西太原 030000
- 2. 山西医科大学附属儿童医院,山西太原 030000
- 折叠
摘要
位于Xq28上的甲基-CpG结合蛋白2(MECP2)基因突变可导致多种严重的呈X连锁遗传的神经系统疾病.其中,MECP2突变主要与Rett综合征(RTT)相关.目前尚无治愈Rett综合征的方法,现有的主要治疗手段仍停留于对症治疗,以缓解症状,延长寿命.通过逐渐深入的研究及小鼠模型的应用,Rett综合征的发病机制更加明确,针对Rett综合征的治疗思路不断更新.Rett综合征不是一种不可逆转的疾病,这一突破性的想法推动了对先进基因和RNA疗法有益效果的研究.基因替代、基因编辑、失活的X染色体再激活及IGF-1的内源性神经肽合成类似物等开始应用于Rett综合征的治疗.本文将回顾Rett综合征相关的发病机制及治疗手段,为Rett综合征的治疗提供更多思路.
Abstract
Mutations in the methyl-CpG binding protein 2(MECP2)gene located on Xq28 can lead to various severe X-linked neurological disorders.Among them,MECP2 mutations are mainly associated with Rett syndrome(RTT).Currently,there is no cure for Rett syndrome,and existing treatment methods mainly focus on symptomatic relief and prolonging lifespan.Through in-depth research and the use of mouse models,the pathogenesis of Rett syndrome has become clearer,leading to continuous updates in treatment strategies for Rett syndrome.Rett syndrome is not an irreversible disease,and this break-through idea has driven research into advanced gene and RNA therapies that could be beneficial.Approaches such as gene replacement,gene editing,reactivation of the inactivated X chromosome,and synthetic analogs of IGF-1 have started to be applied in the treatment of Rett syndrome.This article will review the pathogenesis and treatment methods related to Rett syndrome,providing more insights for the treatment of Rett syndrome.
关键词
Rett综合征/MECP2/基因编辑/曲非奈肽Key words
Rett syndrome/MECP2/gene-edited/Trofinetide引用本文复制引用
出版年
2024
NETL
NSTL
万方数据