Multiple exon skipping strategies to by-pass dystrophin mutations

Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon...

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Main Authors:	Adkin, Carl F., Meloni, Penelope L., Fletcher, Susan, Adams, Abbie M., Muntoni, Francesco, Wong, Brenda, Wilton, Steve D.
Format:	Online
Language:	English
Published:	Pergamon Press 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488593/

id	pubmed-3488593
recordtype	oai_dc
spelling	pubmed-34885932013-04-01 Multiple exon skipping strategies to by-pass dystrophin mutations Adkin, Carl F. Meloni, Penelope L. Fletcher, Susan Adams, Abbie M. Muntoni, Francesco Wong, Brenda Wilton, Steve D. Article Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon skipping strategies exist to restore dystrophin expression. However, for some small intra-exonic mutations, a third strategy, not applicable to whole exon deletions, may be possible. The removal of only one frame-shifting exon flanking the mutation-carrying exon may restore the reading frame and allow synthesis of a functional dystrophin isoform, providing that no premature termination codons are encountered. For these mutations, the removal of only one exon offers a simpler, cheaper and more feasible alternative approach to the dual exon skipping that would otherwise be considered. We present strategies to by-pass intra-exonic dystrophin mutations that clearly demonstrate the importance of tailoring exon skipping strategies to specific patient mutations. Pergamon Press 2012-04 /pmc/articles/PMC3488593/ /pubmed/22182525 http://dx.doi.org/10.1016/j.nmd.2011.10.007 Text en © 2012 Elsevier B.V. https://creativecommons.org/licenses/by/3.0/ Open Access under CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/) license
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Adkin, Carl F. Meloni, Penelope L. Fletcher, Susan Adams, Abbie M. Muntoni, Francesco Wong, Brenda Wilton, Steve D.
spellingShingle	Adkin, Carl F. Meloni, Penelope L. Fletcher, Susan Adams, Abbie M. Muntoni, Francesco Wong, Brenda Wilton, Steve D. Multiple exon skipping strategies to by-pass dystrophin mutations
author_facet	Adkin, Carl F. Meloni, Penelope L. Fletcher, Susan Adams, Abbie M. Muntoni, Francesco Wong, Brenda Wilton, Steve D.
author_sort	Adkin, Carl F.
title	Multiple exon skipping strategies to by-pass dystrophin mutations
title_short	Multiple exon skipping strategies to by-pass dystrophin mutations
title_full	Multiple exon skipping strategies to by-pass dystrophin mutations
title_fullStr	Multiple exon skipping strategies to by-pass dystrophin mutations
title_full_unstemmed	Multiple exon skipping strategies to by-pass dystrophin mutations
title_sort	multiple exon skipping strategies to by-pass dystrophin mutations
description	Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon skipping strategies exist to restore dystrophin expression. However, for some small intra-exonic mutations, a third strategy, not applicable to whole exon deletions, may be possible. The removal of only one frame-shifting exon flanking the mutation-carrying exon may restore the reading frame and allow synthesis of a functional dystrophin isoform, providing that no premature termination codons are encountered. For these mutations, the removal of only one exon offers a simpler, cheaper and more feasible alternative approach to the dual exon skipping that would otherwise be considered. We present strategies to by-pass intra-exonic dystrophin mutations that clearly demonstrate the importance of tailoring exon skipping strategies to specific patient mutations.
publisher	Pergamon Press
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488593/
_version_	1611921250644393984

Multiple exon skipping strategies to by-pass dystrophin mutations

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