Guest Open Access | Free Content | About | Sign in | New Users: Sign up | Mark List  

 

Current Molecular Pharmacology

Volume 2 Issue 1
ISSN: 1874-4672

 

   All Titles

  Personalised Genetic Intervention for Duchenne Muscular Dystrophy: Antisense Oligomers and Exon Skipping
  pp.110-121 (12) Authors: Chalermchai Mitrpant, Sue Fletcher, Steve D. Wilton
doi: 10.2174/1874467210902010110
 
 
      Abstract

Duchenne muscular dystrophy (DMD) arises from protein-truncating mutations in the large dystrophin gene that preclude synthesis of a functional protein that primarily stabilizes muscle fibre membranes. The absence of dystrophin leads to this most common and serious form of childhood muscle-wasting. Since the identification of the dystrophin gene in 1987, cell and gene repair or replacement therapies have been evaluated for DMD treatment and one genetic intervention, exon skipping, is now in clinical trials. Antisense oligomers have been designed to redirect dystrophin splicing patterns so that targeted exons may be removed from a defective dystrophin pre-mRNA to either restore the reading frame of a deletion, or excise an in-frame exon corrupted by a nonsense mutation or microinsertion/ deletion. This review discusses the evolution of oligomer induced exon skipping, including in vitro applications, evaluation of different oligomer chemistries, the treatment of animal models and alternative exon skipping strategies involving viral expression cassettes and ex vivo manipulation of stem cells. The discussion culminates with the current clinical trials and the great challenges that lie ahead. The major obstacle to the implementation of personalised genetic treatments to address the many different mutations that can lead to DMD, are considered to be establishing effective treatments for the different patients and their mutations. Furthermore, the view of regulatory authorities in assessing preclinical data on potentially scores of different but class-specific compounds will be of paramount importance in expediting the clinical application of exon skipping therapy for this serious and relentlessly progressive muscle wasting disease.

 
  Keywords: Antisense oligonucleotides, exon skipping, duchenne muscular dystrophy, morpholino, clinical trials, dystrophin, personalized medicine, pre-mRNA splicing
  Affiliation: Centre for Neuromuscular and Neurological Disorders Australian Neuromuscular Research Institute 4th Floor “A” Block, QE II Medical Centre Nedlands 6009 Western Australia.
 
  Key: New Content Free Content Open Access Subscribed Content

 
Bentham Science Publishers
www.bentham.org

  Copyright © 1994 - 2010   Bentham Science Publishers Ltd.