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杜氏肌营养不良反义寡核苷酸介导的外显子跳跃疗法的进展与前景

Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.

作者信息

Chwalenia Katarzyna, Wood Matthew J A, Roberts Thomas C

机构信息

Institute of Developmental and Regenerative Medicine, University of Oxford, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Dr, Headington, Oxford, OX3 7TY, UK.

Department of Paediatrics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK.

出版信息

J Muscle Res Cell Motil. 2025 Jan 30. doi: 10.1007/s10974-024-09688-2.

Abstract

Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin. However, the efficacy of these compounds is very limited, with delivery remaining a key obstacle to effective therapy. There is therefore an urgent need for improved ASO technologies with better efficacy, and with applicability to a wider range of patient mutations. Here we discuss recent developments in ASO therapies for DMD, and future prospects with a focus on ASO chemical modification and bioconjugation strategies.

摘要

近年来,针对进行性肌肉萎缩疾病杜氏肌营养不良症(DMD)的先进治疗领域取得了巨大进展。特别是,四种针对各种导致DMD的突变的反义寡核苷酸(ASO)疗法已获得美国食品药品监督管理局(FDA)批准,这标志着该疾病治疗的重大里程碑。这些化合物旨在诱导选择性剪接事件,从而恢复肌营养不良蛋白基因的翻译阅读框,导致产生内部缺失但大多具有功能的假肌营养不良蛋白,有可能弥补肌营养不良蛋白的基因缺失。然而,这些化合物的疗效非常有限,给药仍然是有效治疗的关键障碍。因此,迫切需要改进的ASO技术,以提高疗效,并适用于更广泛的患者突变。在此,我们讨论DMD的ASO疗法的最新进展以及未来前景,重点关注ASO化学修饰和生物偶联策略。

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