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别再胡闹了:评估毒性外显子作为神经发育障碍的治疗靶点

No more nonsense: evaluating poison exons as therapeutic targets in neurodevelopmental disorders.

作者信息

Bakshi Shreeya, Isom Lori L

机构信息

Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

出版信息

Curr Opin Genet Dev. 2025 Jun;92:102346. doi: 10.1016/j.gde.2025.102346. Epub 2025 Apr 9.

Abstract

Alternative splicing of pre-mRNA generates multiple transcripts from a single gene, contributing to transcriptomic diversity. Alternative splicing can result in inclusion of poison exons (PEs), which contain a premature stop codons (PTC) that target transcripts for nonsense-mediated decay (NMD). PE-containing transcripts are prevalent in the brain, where they can play roles in fine-tuning mRNA and protein levels. Antisense, or splice-switching, oligonucleotides (ASOs/SSOs) are used to target PEs to reduce their inclusion and treat neurodevelopmental disorders. ASOs/SSOs address the genetic causes of disease and are precision therapies that can provide a cure rather than only address disease symptoms. This review explores the role of PEs in the brain, therapeutic targeting of PEs, and current challenges in our understanding of PEs.

摘要

前体mRNA的可变剪接可从单个基因产生多种转录本,有助于转录组的多样性。可变剪接可导致毒性外显子(PE)的包含,这些外显子含有提前终止密码子(PTC),可将转录本靶向无义介导的衰变(NMD)。含PE的转录本在大脑中普遍存在,它们可以在微调mRNA和蛋白质水平中发挥作用。反义或剪接转换寡核苷酸(ASO/SSO)用于靶向PE以减少其包含并治疗神经发育障碍。ASO/SSO解决了疾病的遗传原因,是可以提供治愈方法而不仅仅是解决疾病症状的精准疗法。本综述探讨了PE在大脑中的作用、PE的治疗靶点以及我们对PE理解方面的当前挑战。

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