期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 2, 页码 102-110出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.10.013
关键词
Exon skipping; Duchenne muscular dystrophy; Antisense oligonucleotides; Phosphorodiamidate morpholino oligomer
资金
- Muscular Dystrophy Campaign, Action Duchenne (formerly Parent Project UK)
- Duchenne Family Support Group
- Muscular Dystrophy Ireland
- NIH
- Muscular Dystrophy Association USA
- Clinigene EC Network of Excellence [LSHB-CT-2006018933]
- Department of Health (UK)
- MRC
- Wellcome Trust University Award
- Muscular Dystrophy Campaign
- Association Francais Contre les Myopathies
- EU MYOAMP
- Duchenne Parent Project
- MRC [G0502130, G0601943] Funding Source: UKRI
- Medical Research Council [G0502130, G0601943] Funding Source: researchfish
Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin protein, most commonly as a result of a range of out-of-frame mutations in the DMD gene. Modulation of pre-mRNA splicing with antisense oligonucleotides (AOs) to restore the reading frame has been demonstrated in vitro and in vivo, such that truncated but functional dystrophin is expressed. AO-induced skipping of exon 51 of the DMD gene, which could treat 13% of DMD patients, has now progressed to clinical trials. We describe here the methodical, cooperative comparison, in vitro (in DMD cells) and in vivo (in a transgenic mouse expressing human dystrophin), of 24 AOs of the phosphorodiamidate morpholino oligomer (PMO) chemistry designed to target exon 53 of the DMD gene, skipping of which could be potentially applicable to 8% of patients. A number of the PMOs tested should be considered worthy of development for clinical trial. (C) 2009 Elsevier B.V. All rights reserved.
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