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Title: Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
Authors: Nishida, Atsushi
Kataoka, Naoyuki  KAKEN_id
Takeshima, Yasuhiro
Yagi, Mariko
Awano, Hiroyuki
Ota, Mitsunori
Itoh, Kyoko
Hagiwara, Masatoshi  kyouindb  KAKEN_id
Matsuo, Masafumi
Author's alias: 萩原, 正敏
松尾, 雅文
Issue Date: 10-May-2011
Publisher: Nature Publishing Group
Citation: Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M. Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun. 2011;2:308.
Journal title: Nature communications
Volume: 2
Thesis number: 308
Abstract: Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. Control of dystrophin mRNA splicing to convert severe DMD to a milder phenotype is attracting much attention. Here we report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but functional, dystrophin protein is produced in the patient cells. An analysis of the mRNA reveals that the mutation promotes exon skipping and restores the open reading frame of dystrophin. Presumably, the mutation disrupts an exonic splicing enhancer and creates an exonic splicing silencer. Therefore, we searched for small chemicals that enhance exon skipping, and found that TG003 promotes the skipping of exon 31 in the endogenous dystrophin gene in a dose-dependent manner and increases the production of the dystrophin protein in the patient's cells.
Description: 筋ジストロフィーに対する新しい低分子治療薬候補物質を発見. 京都大学プレスリリース. 2011-05-11.
Rights: © 2011 Nature Publishing Group
This work is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit
DOI(Published Version): 10.1038/ncomms1306
PubMed ID: 21556062
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