反义寡核苷酸治疗单基因疾病。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI:10.1515/medgen-2025-2025

Ilona Krey-Grauert, Irene Ferro, Matias Wagner

{"title":"反义寡核苷酸治疗单基因疾病。","authors":"Ilona Krey-Grauert, Irene Ferro, Matias Wagner","doi":"10.1515/medgen-2025-2025","DOIUrl":null,"url":null,"abstract":"Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in clinical development. Their application spans neurogenetic, metabolic, and oncologic disorders, also with emerging n-of-1 approaches for ultra-rare conditions. This review describes the different mechanism of how ASOs work depending on their chemistry and discusses the considerations of which patients could be amendable for treatment highlighting the role of human genetics for decision making.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"179-187"},"PeriodicalIF":1.1000,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268252/pdf/","citationCount":"0","resultStr":"{\"title\":\"Antisense oligonucleotide therapies for monogenic disorders.\",\"authors\":\"Ilona Krey-Grauert, Irene Ferro, Matias Wagner\",\"doi\":\"10.1515/medgen-2025-2025\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in clinical development. Their application spans neurogenetic, metabolic, and oncologic disorders, also with emerging n-of-1 approaches for ultra-rare conditions. This review describes the different mechanism of how ASOs work depending on their chemistry and discusses the considerations of which patients could be amendable for treatment highlighting the role of human genetics for decision making.\",\"PeriodicalId\":51130,\"journal\":{\"name\":\"Medizinische Genetik\",\"volume\":\"37 3\",\"pages\":\"179-187\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2025-07-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268252/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medizinische Genetik\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1515/medgen-2025-2025\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2025-2025","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/7/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

反义寡核苷酸（ASOs）是一种很有前途的治疗单基因疾病的方式，提供精确的rna靶向策略来调节基因表达。尽管存在递送、毒性和脱靶效应方面的挑战，但ASO疗法进展迅速，有几种已获批准的治疗方法和许多临床开发中的候选治疗方法。它们的应用范围涵盖神经遗传、代谢和肿瘤疾病，以及针对超罕见疾病的新兴n-of-1方法。这篇综述描述了ASOs如何根据其化学成分起作用的不同机制，并讨论了哪些患者可以接受治疗的考虑，强调了人类遗传学在决策中的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Antisense oligonucleotide therapies for monogenic disorders.

Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in clinical development. Their application spans neurogenetic, metabolic, and oncologic disorders, also with emerging n-of-1 approaches for ultra-rare conditions. This review describes the different mechanism of how ASOs work depending on their chemistry and discusses the considerations of which patients could be amendable for treatment highlighting the role of human genetics for decision making.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Medizinische Genetik GENETICS & HEREDITY-

自引率

9.10%

发文量

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.