南京医科大学学报（自然科学版）2026，Vol.46Issue(4)：489-498,10.DOI:10.7655/NYDXBNSN250919
人诱导多能干细胞与脑类器官技术在亨廷顿病研究中的应用
The utilization of human induced pluripotent stem cells and brain organoid technologies in Huntington's disease research
摘要
Abstract
Huntington's disease(HD)is an autosomal dominant genetic disorder caused by the abnormal CAG repeat expansion in the Huntingtin(HTT)gene.It is clinically characterized by choreiform movements,progressive cognitive impairments,and psychiatric symptoms,with no cure currently available.Although the research based on traditional animal models and human tissues has revealed key pathological features such as mutant HTT protein aggregation and selective striatal neuron loss,significant limitations remain in understanding human-specific disease mechanisms.The development of human induced pluripotent stem cell(hiPSC)and brain organoid technology has enabled the construction of human-specific HD models,providing revolutionary platforms for elucidating pathological mechanisms and developing novel therapeutic strategies.This review summarizes the developmental trajectories of both HD patient-derived induced pluripotent stem cell(HD-iPSC)and human brain organoid technology,highlights the research findings and significance of HD-iPSC-derived cells,various brain organoids,and assembloids in HD research,and discusses the current challenges and future prospects of brain organoid applications.关键词
诱导多能干细胞/人脑类器官/类组装体/突变型亨廷顿蛋白/亨廷顿病Key words
induced pluripotent stem cell/human brain organoids/assembloids/mutant Huntingtin protein/Huntington's disease分类
医药卫生引用本文复制引用
陈星伊,刘妍,尤卫艳..人诱导多能干细胞与脑类器官技术在亨廷顿病研究中的应用[J].南京医科大学学报（自然科学版）,2026,46(4):489-498,10.基金项目
国家自然科学基金(82171528) （82171528）
江苏省高校自然科学基金(18KJB180017) （18KJB180017）
