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Precision medicine through antisense oligonucleotide-mediated exon skipping

Li, D., Mastaglia, F.L., Fletcher, S. and Wilton, S.D. (2018) Precision medicine through antisense oligonucleotide-mediated exon skipping. Trends in Pharmacological Sciences, 39 (11). pp. 982-994.

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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.

Item Type: Journal Article
Murdoch Affiliation: Centre for Comparative Genomics
Publisher: Elsevier (Cell Press)
Copyright: © 2018 Published by Elsevier Ltd
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