Public release date: 15-Jan-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, January 15, 2013A novel therapeutic approach called exon skipping involves bypassing a disease-causing mutation in a gene to restore normal gene expression and protein production. Two innovative examples of this strategy used to correct gene defects associated with muscular dystrophy are described in articles in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website.

Willem Hoogaars and a team of researchers from France, the Netherlands, Finland, and Germany evaluated a combination of an exon-skipping treatment delivered via an adeno-associated virus (AAV) vector and a compound that inhibits myostatin signaling in a mouse model of Duchenne muscular dystrophy. The dual treatments led to improved muscle force and a decrease in ineffective muscle contractions, as well as increased body weight, muscle mass, and muscle fiber size. They did not, however, improve the effects of each treatment given individually. The results are reported in the article "Combined Effect of AAV-U7-Induced Dystrophin Exon Skipping and Soluble Activin Type IIB Receptor in mdx Mice."

Francesca Gualandi and colleagues, University of Ferrara and University of Padua, Italy, used exon skipping to inactivate mutated RNA messages responsible for defective collagen structure and function in muscle tissue affected by Ullrich muscular dystrophy or Bethlem myopathy. The authors describe their approach in "Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy."

"This combines two very promising therapeutic approaches in a relevant animal model of muscular dystrophy," says James M. Wilson, MD, PhD, Editor-in-Chief, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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About the Journal

Human Gene Therapy, the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies, is an authoritative peer-reviewed journal published monthly in print and online. Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans. Related topics include improvements in vector development, delivery systems, and animal models, particularly in the areas of cancer, heart disease, viral disease, genetic disease, and neurological disease, as well as ethical, legal, and regulatory issues related to the gene transfer in humans. Its sister journal, Human Gene Therapy Methods, published bimonthly, focuses on the application of gene therapy to product testing and development, and Human Gene Therapy Clinical Development, launching in 2013, publishes data relevant to the regulatory review and commercial development of cell and gene therapy products. Tables of content for all three publications and a free sample issue may be viewed on the Human Gene Therapy website.

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Exon skipping to restore gene expression is promising therapeutic strategy for muscular dystrophy

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