Literature DB >> 27021413

Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon.

Atsushi Nishida1, Ayaka Oda2, Atsuko Takeuchi3, Tomoko Lee4, Hiroyuki Awano5, Naohiro Hashimoto6, Yasuhiro Takeshima4, Masafumi Matsuo7.   

Abstract

BACKGROUND: Antisense oligonucleotides that induce exon skipping have been nominated as the most plausible treatment method for dystrophin expression in dystrophin-deficient Duchenne muscular dystrophy. Considering this therapeutic efficiency, small chemical compounds that can enable exon skipping have been highly awaited. In our previous report, a small chemical kinase inhibitor, TG003, was shown to enhance dystrophin expression by enhancing exon skipping.
PURPOSE: Staurosporine (STS), a small chemical broad kinase inhibitor, was examined for enhanced skipping of a nonsense-encoding dystrophin exon.
METHODS: STS was added to culture medium of HeLa cells transfected with minigenes expressing wild-type or mutated exon 31 with c.4303G>T (p.Glu1435X), and the resulting mRNAs were analyzed by RT-PCR amplification. Dystrophin mRNA and protein were analyzed in muscle cells treated with STS by RT-PCR and western blotting, respectively.
RESULTS: STS did not alter splicing of the wild-type minigene. In the mutated minigene, STS increased the exon 31-skipped product. A combination of STS and TG003 did not significantly increase the exon 31-skipped product. STS enhanced skipping of exon 4 of the CDC-like kinase 1 gene, whereas TG003 suppressed it. Two STS analogs with selective kinase inhibitory activity did not enhance the mutated exon 31 skipping. When immortalized muscle cells with c.4303G>T in the dystrophin gene were treated with STS, skipping of the mutated exon 31 and dystrophin expression was enhanced.
CONCLUSIONS: STS, a broad kinase inhibitor, was shown to enhance skipping of the mutated exon 31 and dystrophin expression, but selective kinase inhibitors did not.
Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Chemical; Dystrophin; Exon skipping; Nonsense mutation; Staurosporine

Mesh:

Substances:

Year:  2016        PMID: 27021413     DOI: 10.1016/j.braindev.2016.03.003

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  3 in total

Review 1.  Normal and altered pre-mRNA processing in the DMD gene.

Authors:  Sylvie Tuffery-Giraud; Julie Miro; Michel Koenig; Mireille Claustres
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132

2.  Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.

Authors:  Yukiya Sako; Kensuke Ninomiya; Yukiko Okuno; Masayasu Toyomoto; Atsushi Nishida; Yuka Koike; Kenji Ohe; Isao Kii; Suguru Yoshida; Naohiro Hashimoto; Takamitsu Hosoya; Masafumi Matsuo; Masatoshi Hagiwara
Journal:  Sci Rep       Date:  2017-05-30       Impact factor: 4.379

3.  An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.

Authors:  Tomohiko Yamamura; Kandai Nozu; Yuya Miyoshi; Keita Nakanishi; Junya Fujimura; Tomoko Horinouchi; Shogo Minamikawa; Nobuo Mori; Rika Fujimaru; Koichi Nakanishi; Takeshi Ninchoji; Hiroshi Kaito; Taniguchi-Ikeda Mariko; Ichiro Morioka; Masafumi Matsuo; Kazumoto Iijima
Journal:  BMC Nephrol       Date:  2017-12-04       Impact factor: 2.388

  3 in total

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