亨廷顿病基因治疗的进展

Advancements in gene therapy for Huntington's disease

摘要

亨廷顿病是一种常染色体显性遗传病，近年来多项针对mRNA水平的干预策略相继开展临床试验，同时随着聚集的规律性间隔短回文重复序列（clustered regularly interspersed short palindromic repeats，CRISPR）/CRISPR关联基因（CRISPR associated gene，Cas）系统的日渐成熟，针对致病基因组的基因编辑策略也屡有报道。本文将围绕亨廷顿病基因治疗的临床现状、研究进展、临床评估的改进做简要综述。

Abstract

Huntington's disease is an autosomal dominant genetic disease. In recent years，clinical trials have been conducted for various intervention strategies targeting mRNA levels，and meanwhile，with the development of the clustered regularly interspersed short palindromic repeat（CRISPR）/CRISPR-associated genes system，there are also reports on gene editing strategies for pathogenic genomes. This article reviews the gene therapy for Huntington's disease in terms of current clinical status，research advances，and improvements in clinical assessment.

关键词

亨廷顿病 / 基因治疗 / 反义寡核苷酸 / 基因编辑

Key words

Huntington's disease / gene therapy / antisense oligonucleotide / gene editing

基金资助

国家重点研发计划资助项目(2022YFA1104900;2022YFA1104904)

国家自然科学基金资助项目(82071255;82271266;82101330)

广东省神经系统疾病临床医学研究中心资助项目(2020B1111170002)

广东省神经疾病早期干预及功能修复研究国际科技合作基地资助项目(2020A0505020004)