Duchenne Muscular Dystrophy (DMD) is the most common X-linked fatal neuromuscular disorder, affecting approximately 1 in every 3500 male births. It is characterized by progressive degeneration of skeletal and cardiac muscle due to a defective form of the gene dystrophin. There is currently no cure for DMD and the available treatment options have limited ability to address the underlying cause of DMD: dystrophin absence or dysfunction.
Dr. Khurana at the University of Pennsylvania has been interested in targeting utrophin, the homolog of dystrophin, as an approach for treating DMD. Previous work has demonstrated that increasing utrophin expression can compensate for the lack of functional dystrophin in DMD, resulting in improved muscular integrity and strength.
In collaboration with Dr. Wilton at Murdoch University, the researchers have developed a strategy for increasing utrophin expression, which has been validated in a mouse model of DMD. The approach targets let7c, a microRNA that normally suppresses expression of utrophin. Through the use of site blocking oligonucleotides, the interaction of let7c with utrophin is disrupted, resulting in the elevation of utrophin expression and rescue of the DMD phenotype. These findings suggest a potential therapeutic approach for DMD.
- Efficacy demonstrated in mouse model
- No observed toxicity
Treatment of DMD
Stage of Development:
Studies completed in mouse model of DMD (mdx mouse)