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新型反义寡核苷酸的体外评估可预测杜氏肌营养不良症的体内外显子跳跃活性。

In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy.

机构信息

State Key Laboratory of AgroBiotech, The Life Science Research Centre, China Agricultural University, Beijing, China.

出版信息

J Gene Med. 2010 Apr;12(4):354-64. doi: 10.1002/jgm.1446.


DOI:10.1002/jgm.1446
PMID:20235089
Abstract

BACKGROUND: Targeted splice modulation of pre-mRNA transcripts by antisense oligonucleotides (AOs) can correct the function of aberrant disease-related genes. Duchenne muscular dystrophy (DMD) arises as a result of mutations that interrupt the open-reading frame in the DMD gene encoding dystrophin such that dystrophin protein is absent, leading to fatal muscle degeneration. AOs have been shown to correct this dystrophin defect via exon skipping to yield functional dystrophin protein in animal models of DMD and also in DMD patients via intramuscular administration. To advance this therapeutic method requires increased exon skipping efficiency via an optimized AO sequence, backbone chemistry and additional modifications, and the improvement of methods for evaluating AO efficacy. METHODS: In the present study, we establish the conditions for rapid in vitro AO screening in H(2)K muscle cells, in which we evaluate the exon skipping properties of a number of known and novel AO chemistries [2'-O-methyl, peptide nucleic acid, phosphorodiamidate morpholino (PMO)] and their peptide-conjugated derivatives and correlate their in vitro and in vivo exon skipping activities. RESULTS: The present study demonstrates that using AO concentrations of 300 nM with analysis at a single time-point of 24 h post-transfection allowed the effective in vitro screening of AO compounds to yield data predictive of in vivo exon skipping efficacy. Peptide-conjugated PMO AOs provided the highest in vitro activity. We also show for the first time that the feasibility of rapid AO screening extends to primary cardiomyocytes. CONCLUSIONS: In vitro screening of different AOs within the same chemical class is a reliable method for predicting the in vivo exon skipping efficiency of AOs for DMD.

摘要

背景:通过反义寡核苷酸(AOs)靶向剪接调节前体 mRNA 转录本,可以纠正与疾病相关的异常基因的功能。杜氏肌营养不良症(DMD)是由于基因突变导致 DMD 基因的开放阅读框中断,从而使肌营养不良蛋白缺失,导致致命的肌肉退化。研究表明,AOs 通过外显子跳跃纠正这种肌营养不良缺陷,从而在 DMD 动物模型中产生功能性肌营养不良蛋白,也可以通过肌肉内给药在 DMD 患者中产生。为了推进这种治疗方法,需要通过优化的 AO 序列、骨架化学和其他修饰来提高外显子跳跃效率,并改进评估 AO 疗效的方法。

方法:本研究在 H(2)K 肌肉细胞中建立了快速体外 AO 筛选的条件,在此条件下,我们评估了多种已知和新型 AO 化学物质(2'-O-甲基、肽核酸、磷酰胺酸吗啉(PMO))及其肽缀合衍生物的外显子跳跃特性,并将其与体外和体内外显子跳跃活性相关联。

结果:本研究表明,使用 300 nM 的 AO 浓度,并在转染后 24 小时进行单次分析,可以有效地进行体外 AO 化合物筛选,从而获得预测体内外显子跳跃疗效的结果。肽缀合 PMO AOs 提供了最高的体外活性。我们还首次表明,快速 AO 筛选的可行性扩展到原代心肌细胞。

结论:在同一化学类别中筛选不同的 AOs 是预测 AOs 对 DMD 体内外显子跳跃效率的可靠方法。

相似文献

[1]
In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy.

J Gene Med. 2010-4

[2]
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy.

Mol Ther. 2017-7-28

[3]
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD.

Gene Ther. 2006-10

[4]
Optimization of peptide nucleic acid antisense oligonucleotides for local and systemic dystrophin splice correction in the mdx mouse.

Mol Ther. 2010-1-12

[5]
Exon Skipping Therapy Using Phosphorodiamidate Morpholino Oligomers in the mdx52 Mouse Model of Duchenne Muscular Dystrophy.

Methods Mol Biol. 2018

[6]
Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing.

Methods Mol Biol. 2012

[7]
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy.

PLoS One. 2014-11-3

[8]
A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice.

Hum Mol Genet. 2009-8-18

[9]
Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice.

Mol Ther. 2008-1

[10]
Systematic evaluation of 2'-Fluoro modified chimeric antisense oligonucleotide-mediated exon skipping in vitro.

Sci Rep. 2019-4-15

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[1]
Targeting Drug Delivery System to Skeletal Muscles: A Comprehensive Review of Different Approaches.

J Cachexia Sarcopenia Muscle. 2025-2

[2]
A functional splice variant of the human Golgi CMP-sialic acid transporter.

Glycoconj J. 2016-12

[3]
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy.

PLoS One. 2014-11-3

[4]
Cellular trafficking determines the exon skipping activity of Pip6a-PMO in mdx skeletal and cardiac muscle cells.

Nucleic Acids Res. 2013-12-23

[5]
Combinatorial peptide libraries: mining for cell-binding peptides.

Chem Rev. 2014-1-22

[6]
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents.

Appl Clin Genet. 2011-3-10

[7]
Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice.

EMBO Mol Med. 2013-5-29

[8]
Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice.

PLoS One. 2013-4-26

[9]
Targeting RNA to treat neuromuscular disease.

Nat Rev Drug Discov. 2011-8-1

[10]
Antisense mediated exon skipping therapy for duchenne muscular dystrophy (DMD).

Artif DNA PNA XNA. 2011-1

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