Home LiteratureArticle Details
PMID: 17041910 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Human mutation ·Vol. 28 ·No. 2 ·2007-02-00 ·Pages 196-202

Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M

Abstract

Approximately two-thirds of Duchenne muscular dystrophy (DMD) patients show intragenic deletions ranging from one to several exons of the DMD gene and leading to a premature stop codon. Other deletions that maintain the translational reading frame of the gene result in the milder Becker muscular dystrophy (BMD) form of the disease. Thus the opportunity to transform a DMD phenotype into a BMD phenotype appeared as a new treatment strategy with the development of antisense oligonucleotides technology, which is able to induce an exon skipping at the pre-mRNA level in order to restore an open reading frame. Because the DMD gene contains 79 exons, thousands of potential transcripts could be produced by exon skipping and should be investigated. The conventional approach considers skipping of a single exon. Here we report the comparison of single- and multiple-exon skipping strategies based on bioinformatic analysis. By using the Universal Mutation Database (UMD)-DMD, we predict that an optimal multiexon skipping leading to the del45-55 artificial dystrophin (c.6439_8217del) could transform the DMD phenotype into the asymptomatic or mild BMD phenotype. This multiple-exon skipping could theoretically rescue up to 63% of DMD patients with a deletion, while the optimal monoskipping of exon 51 would rescue only 16% of patients.

MeSH Terms
Adolescent Adult Child Codon, Nonsense Computational Biology Dystrophin/genetics Exons Humans Male Middle Aged Muscular Dystrophy, Duchenne/genetics,therapy Oligonucleotides, Antisense Open Reading Frames Phenotype Sequence Analysis, RNA Sequence Deletion
Chemicals
Codon, Nonsense DMD protein, human Dystrophin Oligonucleotides, Antisense
Authors & Affiliations
18 authors, click to expand affiliations / ORCID
Béroud Christophe
Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique, Unité de Formation et de Recherche Médecine Site Nord Unité Pédagogique Médicale/IURC, Montpellier, France. [email protected]
Tuffery-Giraud Sylvie
Matsuo Masafumi
Hamroun Dalil
Humbertclaude Véronique
Monnier Nicole
Moizard Marie-Pierre
Voelckel Marie-Antoinette
Calemard Laurence Michel
Boisseau Pierre
Blayau Martine
Philippe Christophe
Cossée Mireille
Pagès Michel
Rivier François
Danos Olivier
Garcia Luis
Claustres Mireille
Article Info
Journal
Human mutation
Abbr.
Hum Mutat
ISSN
1098-1004
Published
2007-02-00
Pages
196-202
Language
English
Region
United States
NLM ID
9215429
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]