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
作者:
作者单位:

1南京医科大学药学院干细胞与神经再生研究所,2基础医学院神经生物学系,江苏 南京 211166

作者简介:

通讯作者:

中图分类号:

基金项目:

国家自然科学基金(82171528);江苏省高校自然科学基金(18KJB180017)


The utilization of human induced pluripotent stem cells and brain organoid technologies in Huntington’s disease research
Author:
Affiliation:

1Institute of Stem Cell and Neural Regeneration,School of Pharmacy,2Department of Neurobiology,School of BasicMedical Sciences,Nanjing Medical University,Nanjing 211166 ,China

Fund Project:

  • 摘要
  • |
  • 图/表
  • |
  • 访问统计
  • |
  • 参考文献
  • |
  • 相似文献
  • |
  • 引证文献
  • |
  • 资源附件
  • |
  • 文章评论
    摘要:

    亨廷顿病(Huntington’s disease,HD)是一种由亨廷顿(Huntingtin,HTT)基因CAG重复序列异常扩增导致的常染色体显性遗传病,其临床表现为舞蹈样动作、进行性认知障碍及精神症状,目前尚无根治方法。基于传统动物模型和人类组织的研究虽已揭示突变型HTT蛋白聚集、纹状体神经元选择性丢失等关键病理特征,但在人类细胞特异性致病机制研究方面仍存在明显局限。基于人诱导多能干细胞(human induced pluripotent stem cell,hiPSC)与脑类器官技术构建人类特异性HD模型,为阐明疾病发病机制以及开发新型治疗策略提供了革命性研究平台。文章分别回顾HD患者来源的诱导多能干细胞(HD patient- derived induced pluripotent stem cell,HD-iPSC)和人脑类器官技术的发展历程,系统介绍HD-iPSC及其来源的各类型细胞、各类型人脑类器官以及类组装体在HD研究中的研究成果和意义,并讨论脑类器官的应用前景与挑战。

    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.

    参考文献
    相似文献
    引证文献
引用本文

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,(4):489-498

复制
分享
文章指标
  • 点击次数:
  • 下载次数:
  • HTML阅读次数:
  • 引用次数:
历史
  • 收稿日期:2025-09-29
  • 最后修改日期:2025-10-11
  • 录用日期:
  • 在线发布日期: 2026-04-14
  • 出版日期:
关闭