亨廷顿舞蹈病神经发育障碍的研究进展

The Research Progress of Neurodevelopmental Disorders in Huntington’s Disease

亨廷顿舞蹈病(HD)是一种由亨廷顿舞蹈病基因(HTT)中CAG重复扩增引起的致命性神经退行性疾病。HD经典的概念是由毒性的突变亨廷顿蛋白(mHTT)作用于成熟的脑细胞引起。然而,目前有越来越多的证据表明mHTT对大脑发育有影响,因此HD可能不仅仅是一种神经退行性疾病,更可能是一种发育相关的疾病。本文综述了HTT在神经发育过程中的重要作用和mHTT对HD神经发育过程的影响,以及通过早期调控神经发育治疗HD的潜力。

Huntington's disease(HD)is a fatal neurodegenerative disease caused by CAG repeat expansion in the Huntington's disease gene(HTT).The classic concept is that HD is caused by toxic mutant huntingtin(mHTT)acting on mature brain cells.However,there is now increasing evidence that mHTT has an impact on brain development,so HD may not be just a neurodegenerative disease,but more likely a developmental disease.This article reviews the important role of HTT in neurodevelopment and the impact of mHTT on the neurodevelopment of HD,as well as the potential of early regula⁃tion of neurodevelopment to treat HD.