Genetic Invesitgations of Muscular Dystrophy Multisystemic Effects

Principal Investigator: Laura Ranum, Ph.D.

Although the primary effects of Duchenne muscular dystrophy is on the muscle, mutations in dystrophin cause significant CNS effects that can results in cognitive and behavior impairments, and clearly affect the heart.  The goal of this project is to generate a drug inducible mouse model of muscular dystrophy that exhibits multisystemic features of muscular dystrophy, including effects on the CNS. This mouse model is unique in that with the administrative of a certain drug it will turn off the disease causing mutation.  This will allow us to study effects of the mutation at different times during development, and to study effects of the disease causing mutation in the multisystemic cells within which it is normally expressed.   This inducible model will help evaluate when and where various therapies, including stem cells, can be administered to correct all symptoms associated with Duchenne muscular dystrophy, and will provide an animal model for validating outcome measures of treatment, including improvement in muscle function, muscle structure, brain imaging by MRI, and other outcome measures.