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Duchenne muscular dystrophy is a devastating muscular dystrophy of childhood. Mutations in the dystrophin gene destroy the link between the internal muscle filaments and the extracellular matrix, resulting in severe muscle weakness and progressive muscle wasting. There is currently no cure and, whilst palliative treatment has improved, affected boys are normally confined to a wheelchair by 12 years of age and die from respiratory or cardiac complications in their twenties or thirties. Therapies currently being developed include mutation-specific treatments, DNA- and cell-based therapies, and drugs which aim to modulate cellular pathways or gene expression. This review aims to provide an overview of the different therapeutic approaches aimed at reconstructing the dystrophin-associated protein complex, including restoration of dystrophin expression and upregulation of the functional homologue, utrophin.

Original publication

DOI

10.1113/expphysiol.2010.053025

Type

Journal article

Journal

Exp Physiol

Publication Date

11/2011

Volume

96

Pages

1101 - 1113

Keywords

Animals, Codon, Nonsense, Dystrophin, Dystrophin-Associated Protein Complex, Exons, Frameshift Mutation, Genetic Therapy, Humans, Male, Mice, Muscle, Skeletal, Muscular Dystrophy, Duchenne, Myoblasts, Sarcolemma, Up-Regulation, Utrophin