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用于小儿神经疾病的剪接转换反义寡核苷酸

Splice-switching antisense oligonucleotides for pediatric neurological disorders.

作者信息

Zhang Xiaochang

机构信息

Department of Human Genetics, The Neuroscience Institute, University of Chicago, Chicago, IL, United States.

出版信息

Front Mol Neurosci. 2024 Jul 25;17:1412964. doi: 10.3389/fnmol.2024.1412964. eCollection 2024.

DOI:10.3389/fnmol.2024.1412964
PMID:39119251
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11306167/
Abstract

Pediatric neurological disorders are frequently devastating and present unmet needs for effective medicine. The successful treatment of spinal muscular atrophy with splice-switching antisense oligonucleotides (SSO) indicates a feasible path to targeting neurological disorders by redirecting pre-mRNA splicing. One direct outcome is the development of SSOs to treat haploinsufficient disorders by targeting naturally occurring non-productive splice isoforms. The development of personalized SSO treatment further inspired the therapeutic exploration of rare diseases. This review will discuss the recent advances that utilize SSOs to treat pediatric neurological disorders.

摘要

儿科神经系统疾病常常具有毁灭性，且对有效药物存在未满足的需求。用剪接转换反义寡核苷酸（SSO）成功治疗脊髓性肌萎缩症表明了通过重定向前体mRNA剪接来靶向神经系统疾病的可行途径。一个直接成果是开发出了通过靶向天然存在的非生产性剪接异构体来治疗单倍剂量不足疾病的SSO。个性化SSO治疗的发展进一步激发了对罕见病的治疗探索。本综述将讨论利用SSO治疗儿科神经系统疾病的最新进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b0/11306167/03176b9d111a/fnmol-17-1412964-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b0/11306167/03176b9d111a/fnmol-17-1412964-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b0/11306167/03176b9d111a/fnmol-17-1412964-g001.jpg

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Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24.
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Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.单细胞长读测序技术在人类脑类器官中揭示了细胞类型特异性和自闭症相关的外显子。
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RNA-based translation activators for targeted gene upregulation.
基于 RNA 的翻译激活剂，用于靶向基因上调。
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Coordination of alternative splicing and alternative polyadenylation revealed by targeted long read sequencing.通过靶向长读测序揭示的可变剪接和可变多聚腺苷酸化的协调作用。
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Therapeutic approaches for Duchenne muscular dystrophy.杜氏肌营养不良症的治疗方法。
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