Creating Mouse Models for Studying Muscular Dystrophy

Muscular dystrophy is a disease where mutations in genes interfere with the production of proteins that form healthy muscle. This leads to a progressive weakness and loss of muscle mass, often impacting patients’ ability to walk or making it difficult to breathe or swallow.

FSHD (facioscapulohumeral) is a form of muscular dystrophy which typically begins in the face or shoulders. In other variations of muscular dystrophy, the muscles undergo a cycle of degeneration and regeneration, but there is little evidence of this occurring with patients who have FSHD. One of the theories behind this phenomenon is that a defect in muscular stem cells is impairing muscle repair or regeneration. Dr. Michael Kyba, a professor at the University of Minnesota, and his lab team are exploring this theory by creating and analyzing mouse models carrying human DNA from FSHD patients. Specifically, they are testing the potential connection between the lack of regeneration and stem cells.

Anja Cucak, an undergraduate Biochemistry student, was already working in Kyba’s lab before receiving a grant through Regenerative Medicine Minnesota. Taking over the major responsibilities of a recently departed post-doctoral trainee, Cucak was charged with breeding, maintaining, and performing experiments on these mice with FSHD DNA. The education grant has allowed her to continue working in the lab to develop better mouse models in order to more effectively study FSHD.

Given how FSHD is a debilitating disease, Cucak’s work is helping to improving our understanding of muscular dystrophy, its potential connection with defective stem cells, and how findings in mice may translate to human patients. There is currently no cure for muscular dystrophy, so this research is essential for establishing a basis for future treatments.

Faculty Sponsor: Dr. Michael Kyba, PhD