A new mouse model for facioscapulohumeral muscular dystrophy (FSHD) has been developed. The research behind the development appeared last week in Nature Communications from scientists at the University of Minnesota Medical School.
To create this model, the scientists inserted into mice a gene called DUX4, which is believed to cause FSHD in humans. When they activated the gene in the mice skeletal muscle cells, the animals developed a slow progressive muscular dystrophy with key features of the human disease.
"In genetic diseases for which therapies have been developed, like Duchenne muscular dystrophy, mouse models like the one we discovered were essential to the development and testing of potential therapies," said principal investigator Michael Kyba, Ph.D., professor within the University of Minnesota Medical School and member of the Masonic Cancer Center, University of Minnesota.
The mouse model can be used to test therapies for FSHD and understand why muscle degernation occurs. "FSHD is a very unusual muscular dystrophy with a completely different and poorly understood mechanism of muscle damage compared to the more well-known muscular dystrophies. We really do not know why muscle disappears in these patients," according to the study's lead author Darko Bosnakovski, Ph.D.
"With this mouse model, I'm hopeful we'll make progress in our pursuit for a cure," said Kyba.