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通过在一个或多个外显子内进行双重靶向探索杜氏肌营养不良症治疗性外显子跳跃的前沿领域。

Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons.

作者信息

Aartsma-Rus Annemieke, Kaman Wendy E, Weij Rudie, den Dunnen Johan T, van Ommen Gert-Jan B, van Deutekom Judith C T

机构信息

DMD Genetic Therapy Group, Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.

出版信息

Mol Ther. 2006 Sep;14(3):401-7. doi: 10.1016/j.ymthe.2006.02.022. Epub 2006 Jun 6.

Abstract

Through antisense-induced single-, double-, and multiexon skipping, we have previously demonstrated restoration of dystrophin expression in Duchenne muscular dystrophy (DMD) patient-derived muscle cells in vitro. In this study we further explored the frontiers of this strategy by using specific combinations of 2'-O-methyl phosphorothioate antisense oligonucleotides (AONs) targeting either one or multiple exons. We show that skipping efficiencies may indeed be improved by targeting two putative splicing regulatory sequences within one exon. In particular, such double targeting was effective for the thus far "unskippable" exons 47 and 57. We previously reported the feasibility of multiexon skipping spanning exon 45 to exon 51, using a combination of AONs targeting both outer exons (45 and 51). This would be applicable to 13% of all DMD patients. We here explored the frontiers of multiexon skipping both to increase the number of patients that can be treated with the same set of AONs and to mimic large deletions found in relatively mildly affected BMD patients. We aimed at inducing larger multiexon-skipping stretches, such as exons 17-51, exons 42-55, and exons 45-59. However, this appeared complicated and may be dependent on cotranscriptional splicing and the size of the flanking introns.

摘要

通过反义诱导的单外显子、双外显子和多外显子跳跃,我们之前已在体外证明了杜兴肌营养不良症(DMD)患者来源的肌肉细胞中肌营养不良蛋白表达的恢复。在本研究中,我们通过使用靶向一个或多个外显子的2'-O-甲基硫代磷酸反义寡核苷酸(AON)的特定组合,进一步探索了该策略的前沿领域。我们表明,通过靶向一个外显子内的两个假定剪接调控序列,跳跃效率确实可以提高。特别是,这种双重靶向对于迄今为止“不可跳跃”的外显子47和57有效。我们之前报道了使用靶向两个外侧外显子(45和51)的AON组合跨越外显子45至外显子51进行多外显子跳跃的可行性。这将适用于所有DMD患者的13%。我们在此探索了多外显子跳跃的前沿领域,既为了增加可以用同一组AON治疗的患者数量,也为了模拟在病情相对较轻的贝克型肌营养不良症(BMD)患者中发现的大片段缺失。我们旨在诱导更大的多外显子跳跃片段,如外显子17 - 51、外显子42 - 55和外显子四十五至五十九。然而,这似乎很复杂,可能取决于共转录剪接和侧翼内含子的大小。

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