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浅析降低亨廷顿病治疗中突变型亨廷顿蛋白的等位基因选择性方法。

An insight into allele-selective approaches to lowering mutant huntingtin protein for Huntington's disease treatment.

机构信息

The First Clinical College, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang, Liaoning Province 110122, PR China.

The Queen's University of Belfast Joint College, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang, Liaoning Province 110122, PR China.

出版信息

Biomed Pharmacother. 2024 Nov;180:117557. doi: 10.1016/j.biopha.2024.117557. Epub 2024 Oct 13.

DOI:10.1016/j.biopha.2024.117557
PMID:39405896
Abstract

Huntington's disease (HD), a monogenic neurodegenerative disorder, stems from a CAG repeat expansion within the mutant huntingtin gene (HTT). This leads to a detrimental gain-of-function of the mutated huntingtin protein (mHTT). As of now, there exist no efficacious therapies to alter the disease progression. In view of the monogenetic mutation nature and an indispensable role of wild-type HTT in healthy neurodevelopment and cellular functions, the developing strategy of allele-selectively deleting/silencing mutant HTT as well as only inactivating mHTT without altering wild-type HTT or wild-type huntingtin protein (wtHTT) comes highly recommended, and may offer a promising treatment option for HD. Here, we reviewed the therapeutic approaches that allele-selective lowering mHTT expression by targeting only mutant HTT DNA, RNA and mHTT along with recent preclinical and clinical outcomes and challenges, in anticipation of some novel ideas to be introduced into HD therapeutic research.

摘要

亨廷顿病(HD)是一种单基因神经退行性疾病,源于突变亨廷顿基因(HTT)内的 CAG 重复扩展。这导致突变亨廷顿蛋白(mHTT)产生有害的功能获得。截至目前,尚无有效的疗法可以改变疾病进展。鉴于单基因突变性质以及野生型 HTT 在健康神经发育和细胞功能中的不可或缺作用,选择性缺失/沉默突变 HTT 的等位基因策略,以及仅使 mHTT 失活而不改变野生型 HTT 或野生型 huntingtin 蛋白(wtHTT)的策略,受到高度推荐,并且可能为 HD 提供有前途的治疗选择。在这里,我们综述了通过仅靶向突变 HTT DNA、RNA 和 mHTT 来降低 mHTT 表达的治疗方法,以及最近的临床前和临床结果和挑战,以期为 HD 治疗研究引入一些新的思路。

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