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Abstract #1313

AAV6-Mediated Delivery of a U7 Exon Skipping Construct Improves Regional Cardiac Function in Golden Retriever Muscular Dystrophy Dogs

Sean C. Forbes1, Larry T. Bish2, Meg M. Sleeper3, Wil Mai4, H. Sweeney2, Glenn A. Walter5

1Department of Physical Therapy, University of Florida, Gainesville, FL, United States; 2Department of Physiology, University of Pennsylvania, Philadelphia, PA; 3Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA; 4School of Veterinary Medicine, University of Florida, Philadelphia, PA; 5Department of Physiology & Functional Genomics, University of Florida, Gainesville, FL


Cardiac dysfunction is prevalent in Duchennes muscular dystrophy (DMD), with heart failure a common cause of death. Unfortunately, there is presently no cure or effective treatment for DMD. This study implements a novel approach of exon skipping by using viral mediated delivery of a modified U7 snRNA carrying antisense sequence to correct the disrupted reading frame in Golden Retriever muscular dystrophy (GRMD) dogs. The results indicate increased dystrophin expression and improved regional left ventricular strain values. Thus, AAV-mediated delivery of a U7 exon skipping construct shows promise as a cardiac therapeutic intervention for DMD.

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