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用于单基因疾病的反义寡核苷酸疗法。

Antisense oligonucleotide therapies for monogenic disorders.

作者信息

Krey-Grauert Ilona, Ferro Irene, Wagner Matias

机构信息

University of Leipzig Medical Center Leipzig Institute of Human Genetics Philipp-Rosenthal-Str. 55 04103 Leipzig Germany.

Technical University of Munich Institute of Human Genetics Trogerstr. 32 81675 Munich Germany.

出版信息

Med Genet. 2025 Jul 17;37(3):179-187. doi: 10.1515/medgen-2025-2025. eCollection 2025 Jul.


DOI:10.1515/medgen-2025-2025
PMID:40687881
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12268252/
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.

摘要

反义寡核苷酸(ASO)是治疗单基因疾病的一种很有前景的治疗方式,它提供了精确的RNA靶向策略来调节基因表达。尽管在递送、毒性和脱靶效应方面存在挑战,但ASO疗法发展迅速,已有几种获批疗法,还有众多候选药物处于临床开发阶段。其应用涵盖神经遗传、代谢和肿瘤疾病,针对超罕见疾病的单病例研究方法也不断涌现。本文综述了不同化学结构的ASO发挥作用的不同机制,并讨论了哪些患者适合接受治疗的考量因素,强调了人类遗传学在决策中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/91ef06f32aa9/j_medgen-2025-2025_cv_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/cc01c7f758cd/j_medgen-2025-2025_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/6a8747914805/j_medgen-2025-2025_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/93935a20d637/j_medgen-2025-2025_cv_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/1150c5d35766/j_medgen-2025-2025_cv_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/91ef06f32aa9/j_medgen-2025-2025_cv_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/cc01c7f758cd/j_medgen-2025-2025_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/6a8747914805/j_medgen-2025-2025_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/93935a20d637/j_medgen-2025-2025_cv_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/1150c5d35766/j_medgen-2025-2025_cv_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e980/12268252/91ef06f32aa9/j_medgen-2025-2025_cv_003.jpg

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[1]
Antisense oligonucleotide therapies for monogenic disorders.

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本文引用的文献

[1]
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy.

Nat Med. 2025-4-22

[2]
Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases.

Genes (Basel). 2024-6-21

[3]
Tissue pharmacokinetics of antisense oligonucleotides.

Mol Ther Nucleic Acids. 2024-2-2

[4]
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders.

Commun Med (Lond). 2024-1-5

[5]
Evaluation of Chemically Modified Nucleic Acid Analogues for Splice Switching Application.

ACS Omega. 2023-12-11

[6]
A framework for individualized splice-switching oligonucleotide therapy.

Nature. 2023-7

[7]
Systematic Analysis of Chemical Modifications of Phosphorothioate Antisense Oligonucleotides that Modulate Their Innate Immune Response.

Nucleic Acid Ther. 2023-4

[8]
Change of intracellular calcium level causes acute neurotoxicity by antisense oligonucleotides via CSF route.

Mol Ther Nucleic Acids. 2022-12-23

[9]
Targeting oncogenic KRAS with molecular brush-conjugated antisense oligonucleotides.

Proc Natl Acad Sci U S A. 2022-7-19

[10]
Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis.

Nat Med. 2022-1

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