Josephine Nalbantoglu, associate professor in the department of neurology and neurosurgery at McGill University in Montreal, Canada, received an MDA grant totaling $313,170 for research into increasing levels of the muscle protein utrophin as a therapeutic strategy in Duchenne muscular dystrophy (DMD).
Utrophin is structurally similar to the crucial muscle protein dystrophin, missing in DMD. Nalbantoglu and colleagues aim to validate, in muscle cells and in an animal model of DMD, the potential for utrophin to fulfill some of the functions normally carried out by dystrophin and compensate for the missing protein.
In completed studies, Nalbantoglu's group has shown in an animal model of DMD that utrophin levels can be increased by targeting specific sites in the gene that carries the instructions for utrophin with proteins called transcription factors. Muscle injected with these proteins exhibited fewer hallmarks of disease and increased function despite the absence of dystrophin.
Using the same approach, the team will now refine transcription factors designed to result in increased levels of the human utrophin protein. In parallel, the investigators will explore various methods for delivering the factors throughout the body.
"Funding from MDA is crucial for this work," Nalbantoglu said. The approach of using artificial transcription factors to increase levels of specific genes would have wide application to other muscle diseases. Artificial transcription factors are already in clinical trials for some non-muscle diseases."
Funding for this MDA grant began August 1, 2010.
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