• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

降低亨廷顿蛋白水平会损害诱导多能干细胞衍生的人类皮质神经元网络的成熟和同步突触活性。

Huntingtin lowering impairs the maturation and synchronized synaptic activity of human cortical neuronal networks derived from induced pluripotent stem cells.

机构信息

Université Paris-Saclay, CEA, CNRS, Laboratoire des Maladies Neurodégénératives : Mécanismes, Thérapies, Imagerie, 92265 Fontenay-aux-Roses, France; Université Paris-Saclay, CEA, Molecular Imaging Research Center, 92265 Fontenay-aux-Roses, France.

Université Paris-Saclay, CNRS, CEA, Institute for Integrative Biology of the Cell, 91198 Gif-sur-Yvette, France.

出版信息

Neurobiol Dis. 2024 Oct 1;200:106630. doi: 10.1016/j.nbd.2024.106630. Epub 2024 Aug 5.

DOI:10.1016/j.nbd.2024.106630
PMID:39106928
Abstract

Despite growing descriptions of wild-type Huntingtin (wt-HTT) roles in both adult brain function and, more recently, development, several clinical trials are exploring HTT-lowering approaches that target both wt-HTT and the mutant isoform (mut-HTT) responsible for Huntington's disease (HD). This non-selective targeting is based on the autosomal dominant inheritance of HD, supporting the idea that mut-HTT exerts its harmful effects through a toxic gain-of-function or a dominant-negative mechanism. However, the precise amount of wt-HTT needed for healthy neurons in adults and during development remains unclear. In this study, we address this question by examining how wt-HTT loss affects human neuronal network formation, synaptic maturation, and homeostasis in vitro. Our findings establish a role of wt-HTT in the maturation of dendritic arborization and the acquisition of network-wide synchronized activity by human cortical neuronal networks modeled in vitro. Interestingly, the network synchronization defects only became apparent when more than two-thirds of the wt-HTT protein was depleted. Our study underscores the critical need to precisely understand wt-HTT role in neuronal health. It also emphasizes the potential risks of excessive wt-HTT loss associated with non-selective therapeutic approaches targeting both wt- and mut-HTT isoforms in HD patients.

摘要

尽管越来越多的描述表明野生型亨廷顿蛋白(wt-HTT)在成人大脑功能中发挥作用,最近更是在发育过程中发挥作用,但仍有几项临床试验正在探索降低 HTT 的方法,这些方法既针对导致亨廷顿病(HD)的突变同种型(mut-HTT),也针对 wt-HTT。这种非选择性靶向治疗基于 HD 的常染色体显性遗传,支持 mut-HTT 通过毒性获得功能或显性负性机制发挥其有害作用的观点。然而,wt-HTT 对成年期和发育期健康神经元的需求量仍不清楚。在这项研究中,我们通过研究 wt-HTT 缺失如何影响体外人神经元网络的形成、突触成熟和体内平衡来解决这个问题。我们的研究结果确立了 wt-HTT 在体外建模的人类皮质神经元网络的树突分支成熟和获得全网同步活动中的作用。有趣的是,只有当 wt-HTT 蛋白减少超过三分之二时,网络同步缺陷才会变得明显。我们的研究强调了精确了解 wt-HTT 在神经元健康中的作用的迫切需要。它还强调了在 HD 患者中针对 wt-和 mut-HTT 同种型的非选择性治疗方法可能导致 wt-HTT 过度缺失的潜在风险。

相似文献

1
Huntingtin lowering impairs the maturation and synchronized synaptic activity of human cortical neuronal networks derived from induced pluripotent stem cells.降低亨廷顿蛋白水平会损害诱导多能干细胞衍生的人类皮质神经元网络的成熟和同步突触活性。
Neurobiol Dis. 2024 Oct 1;200:106630. doi: 10.1016/j.nbd.2024.106630. Epub 2024 Aug 5.
2
Increased Activity-Dependent Bulk Endocytosis in Huntington's Disease Results From Huntingtin Haploinsufficiency.亨廷顿病中活性依赖性巨胞饮增加源于亨廷顿蛋白单倍体不足。
J Neurochem. 2025 Jun;169(6):e70134. doi: 10.1111/jnc.70134.
3
Roscovitine, a CDK Inhibitor, Reduced Neuronal Toxicity of mHTT by Targeting HTT Phosphorylation at S1181 and S1201 In Vitro.罗克洛文,一种 CDK 抑制剂,通过靶向 HTT 在 S1181 和 S1201 上的磷酸化,减少了 mHTT 的神经元毒性。
Int J Mol Sci. 2024 Nov 16;25(22):12315. doi: 10.3390/ijms252212315.
4
Neuron-derived extracellular vesicles in plasma present a potential non-invasive biomarker for Huntingtin protein and RNA assessment in Huntington disease.血浆中神经元衍生的细胞外囊泡是一种潜在的非侵入性生物标志物,可用于评估亨廷顿舞蹈病中的亨廷顿蛋白和RNA。
bioRxiv. 2025 Jul 21:2025.07.17.665403. doi: 10.1101/2025.07.17.665403.
5
BDNF and TRiC-inspired reagent rescue cortical synaptic deficits in a mouse model of Huntington's disease.脑源性神经营养因子和三构象维持蛋白样试剂挽救亨廷顿病小鼠模型皮质突触缺陷。
Neurobiol Dis. 2024 Jun 1;195:106502. doi: 10.1016/j.nbd.2024.106502. Epub 2024 Apr 10.
6
Intrastriatal Delivery of a Zinc Finger Protein Targeting the Mutant HTT Gene Allele Obviates Lipid Phenotypes in Brain and Plasma in Huntington's Disease Mice.向纹状体内递送靶向突变型亨廷顿蛋白(HTT)基因等位基因的锌指蛋白可消除亨廷顿病小鼠大脑和血浆中的脂质表型。
Hum Gene Ther. 2025 Aug;36(15-16):1083-1094. doi: 10.1177/10430342251359955. Epub 2025 Jul 23.
7
Cerulenin partially corrects the disrupted developmental transcriptomic signature in Huntington's disease striatal medium spiny neurons.浅蓝菌素可部分纠正亨廷顿舞蹈病纹状体中等棘状神经元中紊乱的发育转录组特征。
Stem Cells. 2025 Jul 21;43(8). doi: 10.1093/stmcls/sxaf029.
8
Downregulation of Pten Improves Huntington's Disease Phenotype by Reducing Htt Aggregates and Cell Death.PTEN的下调通过减少亨廷顿蛋白聚集体和细胞死亡来改善亨廷顿舞蹈病表型。
Mol Neurobiol. 2025 Mar 5. doi: 10.1007/s12035-025-04816-6.
9
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington's disease.激动素介导的突变型亨廷顿蛋白磷酸化可恢复亨廷顿舞蹈病细胞系模型中多个失调的信号通路。
Hum Mol Genet. 2025 Jun 18;34(13):1097-1107. doi: 10.1093/hmg/ddaf052.
10
Prescription of Controlled Substances: Benefits and Risks管制药品的处方:益处与风险

引用本文的文献

1
HTT loss-of-function contributes to RNA deregulation in developing Huntington's disease neurons.亨廷顿蛋白功能丧失导致亨廷顿病神经元发育过程中的RNA失调。
Cell Biosci. 2025 Jul 9;15(1):100. doi: 10.1186/s13578-025-01443-5.