Suppr超能文献

泼尼松龙治疗不干扰肌营养不良症中的 2'-O-甲基磷硫代反义介导的外显子跳跃。

Prednisolone treatment does not interfere with 2'-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy.

机构信息

Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

出版信息

Hum Gene Ther. 2012 Mar;23(3):262-73. doi: 10.1089/hum.2011.127. Epub 2012 Jan 26.

Abstract

In Duchenne muscular dystrophy (DMD), dystrophin deficiency leading to progressive muscular degeneration is caused by frame-shifting mutations in the DMD gene. Antisense oligonucleotides (AONs) aim to restore the reading frame by skipping of a specific exon(s), thereby allowing the production of a shorter, but semifunctional protein, as is found in the mostly more mildly affected patients with Becker muscular dystrophy. AONs are currently being investigated in phase 3 placebo-controlled clinical trials. Most of the participating patients are treated symptomatically with corticosteroids (mainly predniso[lo]ne) to stabilize the muscle fibers, which might affect the uptake and/or efficiency of AONs. Therefore the effect of prednisolone on 2'-O-methyl phosphorothioate AON efficacy in patient-derived cultured muscle cells and the mdx mouse model (after local and systemic AON treatment) was assessed in this study. Both in vitro and in vivo skip efficiency and biomarker expression were comparable between saline- and prednisolone-cotreated cells and mice. After systemic exon 23-specific AON (23AON) treatment for 8 weeks, dystrophin was detectable in all treated mice. Western blot analyses indicated slightly higher dystrophin levels in prednisolone-treated mice, which might be explained by better muscle condition and consequently more target dystrophin pre-mRNA. In addition, fibrotic and regeneration biomarkers were normalized to some extent in prednisolone- and/or 23AON-treated mice. Overall these results show that the use of prednisone forms no barrier to participation in clinical trials with AONs.

摘要

在杜氏肌营养不良症(DMD)中,肌营养不良蛋白的缺乏导致进行性肌肉退化,这是由于 DMD 基因的移码突变引起的。反义寡核苷酸(AONs)旨在通过跳过特定的外显子(多个外显子)来恢复阅读框,从而产生较短但具有部分功能的蛋白质,正如在大多数受影响较轻的贝克肌营养不良症患者中发现的那样。AONs 目前正在进行 3 期安慰剂对照临床试验。大多数参与的患者接受皮质类固醇(主要是泼尼松龙)的对症治疗,以稳定肌肉纤维,这可能会影响 AON 的摄取和/或效率。因此,本研究评估了泼尼松龙对患者来源的培养肌肉细胞和 mdx 小鼠模型(局部和全身 AON 治疗后)中 2'-O-甲基磷硫代酸酯 AON 疗效的影响。在体外和体内,盐皮质激素和泼尼松龙共同处理的细胞和小鼠之间的跳跃效率和生物标志物表达均无差异。在接受 8 周系统性外显子 23 特异性 AON(23AON)治疗后,所有治疗小鼠均可检测到肌营养不良蛋白。Western blot 分析表明,泼尼松龙治疗小鼠中的肌营养不良蛋白水平略高,这可能是由于肌肉状况更好,从而导致更多的靶标肌营养不良蛋白前体 mRNA。此外,在接受泼尼松龙和/或 23AON 治疗的小鼠中,纤维性和再生生物标志物在一定程度上得到了正常化。总体而言,这些结果表明,使用泼尼松龙不会成为 AON 临床试验参与的障碍。

相似文献

3
Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy.
Nucleic Acid Ther. 2023 Jun;33(3):193-208. doi: 10.1089/nat.2022.0063. Epub 2023 Apr 10.
6
Designing Effective Antisense Oligonucleotides for Exon Skipping.
Methods Mol Biol. 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10.
8
The Use of Antisense Oligonucleotides for the Treatment of Duchenne Muscular Dystrophy.
Methods Mol Biol. 2018;1687:171-183. doi: 10.1007/978-1-4939-7374-3_12.
10
Dose-dependent pharmacokinetic profiles of 2'-O-methyl phosphorothioate antisense oligonucleotidesin mdx mice.
Nucleic Acid Ther. 2013 Jun;23(3):228-37. doi: 10.1089/nat.2012.0398. Epub 2013 May 2.

引用本文的文献

1
Therapeutic approaches for Duchenne muscular dystrophy.
Nat Rev Drug Discov. 2023 Nov;22(11):917-934. doi: 10.1038/s41573-023-00775-6. Epub 2023 Aug 31.
2
Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in model mice.
iScience. 2023 Jun 16;26(7):107161. doi: 10.1016/j.isci.2023.107161. eCollection 2023 Jul 21.
3
Assessing the value of delandistrogene moxeparvovec (SRP-9001) gene therapy in patients with Duchenne muscular dystrophy in the United States.
J Mark Access Health Policy. 2023 May 26;11(1):2216518. doi: 10.1080/20016689.2023.2216518. eCollection 2023.
4
Natural products, PGC-1 , and Duchenne muscular dystrophy.
Acta Pharm Sin B. 2020 May;10(5):734-745. doi: 10.1016/j.apsb.2020.01.001. Epub 2020 Jan 8.
6
Combined Therapies for Duchenne Muscular Dystrophy to Optimize Treatment Efficacy.
Front Genet. 2018 Apr 10;9:114. doi: 10.3389/fgene.2018.00114. eCollection 2018.

本文引用的文献

2
Targeted skipping of human dystrophin exons in transgenic mouse model systemically for antisense drug development.
PLoS One. 2011;6(5):e19906. doi: 10.1371/journal.pone.0019906. Epub 2011 May 17.
3
Opportunities and challenges for the development of antisense treatment in neuromuscular disorders.
Expert Opin Biol Ther. 2011 Aug;11(8):1025-37. doi: 10.1517/14712598.2011.579098. Epub 2011 Apr 22.
4
Systemic administration of PRO051 in Duchenne's muscular dystrophy.
N Engl J Med. 2011 Apr 21;364(16):1513-22. doi: 10.1056/NEJMoa1011367. Epub 2011 Mar 23.
5
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy.
EMBO Rep. 2011 Feb;12(2):136-41. doi: 10.1038/embor.2010.208. Epub 2011 Jan 7.
7
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.
Lab Invest. 2010 Sep;90(9):1396-402. doi: 10.1038/labinvest.2010.98. Epub 2010 May 10.
9
Mechanisms of muscle atrophy induced by glucocorticoids.
Horm Res. 2009 Nov;72 Suppl 1:36-41. doi: 10.1159/000229762. Epub 2009 Nov 27.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验