• 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

[亨廷顿舞蹈症的基因选择性治疗方法]

[Gene-selective treatment approaches for Huntington's disease].

作者信息

Mühlbäck A, Lindenberg K S, Saft C, Priller J, Landwehrmeyer G B

机构信息

Abteilung Neurologie, Universitätsklinikum Ulm, Oberer Eselsberg 45/1, 89081, Ulm, Deutschland.

Klinik für Neurologie und Zentrum für klinische Neurowissenschaften, 1. Medizinische Fakultät, Karlsuniversität, Prag, Tschechien.

出版信息

Nervenarzt. 2020 Apr;91(4):303-311. doi: 10.1007/s00115-020-00882-4.

DOI:10.1007/s00115-020-00882-4
PMID:32179957
Abstract

In Germany at least 8000 and probably up to ca. 14,000 people currently suffer from clinically manifest Huntington's disease (HD). In addition, an estimated 24,000 Germans carry the HD mutation in the huntingtin (HTT) gene and will develop HD during their lifetime. Although HD is a rare neurodegenerative disease, it is currently in the focus of general medical interest: clinical trials have begun that provide a rational basis for hope to slow down the so far relentless progression of the disease, ultimately resulting in patients becoming entirely dependent on nursing care. If treatment is started early enough it may be possible to mitigate the clinical manifestation of HD. These innovative therapeutic approaches aim at inhibiting the de novo production of mutant HTT gene products. A first clinical drug trial to demonstrate the efficacy (phase III) of intrathecal antisense oligonucleotides (ASO, active substance RG6042) was started in 2019. Additional clinical studies on alternative treatment approaches with allele-selective ASOs as well as gene therapeutic approaches using RNA molecules and zinc finger repressor complexes are imminent. This article gives an overview of the current gene-selective therapeutic approaches in HD under discussion.

摘要

在德国,目前至少有8000人,可能多达约14000人患有临床症状明显的亨廷顿舞蹈症(HD)。此外,估计有24000名德国人携带亨廷顿蛋白(HTT)基因中的HD突变,他们将在一生中患上HD。尽管HD是一种罕见的神经退行性疾病,但它目前是普通医学关注的焦点:临床试验已经开始,为减缓这种迄今为止无法阻挡的疾病进展带来了合理的希望基础,最终导致患者完全依赖护理。如果治疗开始得足够早,有可能减轻HD的临床表现。这些创新的治疗方法旨在抑制突变HTT基因产物的从头产生。一项首次证明鞘内注射反义寡核苷酸(ASO,活性物质RG6042)疗效的临床药物试验(III期)于2019年启动。关于使用等位基因选择性ASO的替代治疗方法以及使用RNA分子和锌指阻遏复合物的基因治疗方法的其他临床研究即将开展。本文概述了目前正在讨论的HD基因选择性治疗方法。

相似文献

1
[Gene-selective treatment approaches for Huntington's disease].[亨廷顿舞蹈症的基因选择性治疗方法]
Nervenarzt. 2020 Apr;91(4):303-311. doi: 10.1007/s00115-020-00882-4.
2
Translating Antisense Technology into a Treatment for Huntington's Disease.将反义技术转化为亨廷顿舞蹈症的一种治疗方法。
Methods Mol Biol. 2018;1780:497-523. doi: 10.1007/978-1-4939-7825-0_23.
3
Huntingtin-Lowering Therapies for Huntington Disease: A Review of the Evidence of Potential Benefits and Risks.用于治疗亨廷顿舞蹈症的降低亨廷顿蛋白疗法:潜在益处与风险证据综述
JAMA Neurol. 2020 Jun 1;77(6):764-772. doi: 10.1001/jamaneurol.2020.0299.
4
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.一种用于亨廷顿病等位基因特异性 HTT 抑制的综合单体型靶向策略。
Am J Hum Genet. 2019 Dec 5;105(6):1112-1125. doi: 10.1016/j.ajhg.2019.10.011. Epub 2019 Nov 7.
5
Therapeutic Update on Huntington's Disease: Symptomatic Treatments and Emerging Disease-Modifying Therapies.亨廷顿病的治疗进展:症状治疗和新兴的疾病修饰治疗。
Neurotherapeutics. 2020 Oct;17(4):1645-1659. doi: 10.1007/s13311-020-00891-w.
6
Therapeutic strategies for Huntington's disease.亨廷顿病的治疗策略。
Curr Opin Neurol. 2020 Aug;33(4):508-518. doi: 10.1097/WCO.0000000000000835.
7
Huntingtin-lowering strategies for Huntington's disease.降低亨廷顿病亨廷顿蛋白的策略。
Expert Opin Investig Drugs. 2020 Oct;29(10):1125-1132. doi: 10.1080/13543784.2020.1804552. Epub 2020 Aug 14.
8
Allele-selective inhibition of mutant huntingtin expression with antisense oligonucleotides targeting the expanded CAG repeat.靶向扩展的 CAG 重复序列的反义寡核苷酸对突变亨廷顿表达的等位基因选择性抑制。
Biochemistry. 2010 Nov 30;49(47):10166-78. doi: 10.1021/bi101208k. Epub 2010 Nov 8.
9
Lowering Mutant Huntingtin Using Tricyclo-DNA Antisense Oligonucleotides As a Therapeutic Approach for Huntington's Disease.使用三环 DNA 反义寡核苷酸降低突变型亨廷顿蛋白作为亨廷顿病的治疗方法。
Nucleic Acid Ther. 2019 Oct;29(5):256-265. doi: 10.1089/nat.2018.0775. Epub 2019 Jun 11.
10
Nucleic Acid Therapeutics in Huntington's Disease.亨廷顿舞蹈病中的核酸疗法
Recent Pat Biotechnol. 2019;13(3):187-206. doi: 10.2174/1872208313666190208163714.

引用本文的文献

1
Psychosocial Impact of Huntington's Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic.亨廷顿舞蹈症的社会心理影响以及改善斯洛伐克共和国贫困地区患病家庭护理状况的激励措施
J Pers Med. 2022 Nov 22;12(12):1941. doi: 10.3390/jpm12121941.

本文引用的文献

1
Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders.反义寡核苷酸疗法在神经退行性疾病中的应用:以多聚谷氨酰胺疾病为例。
Brain. 2020 Feb 1;143(2):407-429. doi: 10.1093/brain/awz328.
2
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset.CAG 重复序列而非多聚谷氨酰胺长度决定亨廷顿病发病时间。
Cell. 2019 Aug 8;178(4):887-900.e14. doi: 10.1016/j.cell.2019.06.036.
3
A divalent siRNA chemical scaffold for potent and sustained modulation of gene expression throughout the central nervous system.
一种二价 siRNA 化学支架,可在整个中枢神经系统中强效且持续地调节基因表达。
Nat Biotechnol. 2019 Aug;37(8):884-894. doi: 10.1038/s41587-019-0205-0. Epub 2019 Aug 2.
4
[Antisense therapies for neurological diseases].[用于神经疾病的反义疗法]
Nervenarzt. 2019 Aug;90(8):781-786. doi: 10.1007/s00115-019-0724-4.
5
Targeting Huntingtin Expression in Patients with Huntington's Disease.靶向亨廷顿病患者的亨廷顿蛋白表达。
N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6.
6
Quality and quantity control of gene expression by nonsense-mediated mRNA decay.通过无意义介导的 mRNA 衰减对基因表达进行质量和数量控制。
Nat Rev Mol Cell Biol. 2019 Jul;20(7):406-420. doi: 10.1038/s41580-019-0126-2.
7
Therapeutic approaches to Huntington disease: from the bench to the clinic.亨廷顿病的治疗方法:从实验室到临床。
Nat Rev Drug Discov. 2018 Oct;17(10):729-750. doi: 10.1038/nrd.2018.133. Epub 2018 Sep 21.
8
AAV5-miHTT Gene Therapy Demonstrates Broad Distribution and Strong Human Mutant Huntingtin Lowering in a Huntington's Disease Minipig Model.AAV5-miHTT 基因治疗在亨廷顿病小型猪模型中显示出广泛的分布和强烈的人突变亨廷顿蛋白降低。
Mol Ther. 2018 Sep 5;26(9):2163-2177. doi: 10.1016/j.ymthe.2018.06.021. Epub 2018 Jun 25.
9
Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases.利用Cas9切口酶从亨廷顿基因中精确切除CAG序列
Front Neurosci. 2018 Feb 26;12:75. doi: 10.3389/fnins.2018.00075. eCollection 2018.
10
Artificial miRNAs Reduce Human Mutant Huntingtin Throughout the Striatum in a Transgenic Sheep Model of Huntington's Disease.人工 microRNA 可减少亨廷顿病转基因绵羊模型纹状体中的人突变亨廷顿蛋白。
Hum Gene Ther. 2018 Jun;29(6):663-673. doi: 10.1089/hum.2017.199. Epub 2018 Feb 23.