Journal article
Precision medicine through antisense oligonucleotide-mediated exon skipping
Trends in Pharmacological Sciences, Vol.39(11), pp.982-994
2018
Abstract
It has been well established that some genes contain exons that can be omitted from the mature mRNA without seriously compromising gene function, while protein-truncating or missense mutations in those exons cause serious disease.
Manipulation of dystrophin gene expression through redirecting pre-mRNA processing has given accelerated approval for the treatment of Duchenne muscular dystrophy. Antisense oligomer-induced exon skipping of a selected exon can allow a catastrophically defective dystrophin gene to synthesize a truncated but functional dystrophin isoform.
Targeted exon skipping could be applied to many other inherited gene disorders if the disease-causing mutation is found to occur in an exon whose loss from the mature mRNA would not completely abrogate gene function.
Since genomic deletions of an in-frame exon are rare in many genes, genotype–phenotype correlations are limited to infrequent splice site mutations that lead to exon skipping.
Details
- Title
- Precision medicine through antisense oligonucleotide-mediated exon skipping
- Authors/Creators
- D. Li (Author/Creator)F.L. Mastaglia (Author/Creator)S. Fletcher (Author/Creator)S.D. Wilton (Author/Creator)
- Publication Details
- Trends in Pharmacological Sciences, Vol.39(11), pp.982-994
- Publisher
- Elsevier (Cell Press)
- Identifiers
- 991005541960607891
- Copyright
- © 2018 Published by Elsevier Ltd
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Pharmacology & Pharmacy
- ESI research areas
- Pharmacology & Toxicology