Posted by Friends of FSH Research on Nov 16, 2018
Studies are underway to understand the pathological mechanism of FSHD, i.e. how DUX4 expression ultimately leads to loss of skeletal muscle and its replacement with fat and scar tissue. We are using both our recently developed FSHD mouse model, named the iDUX4pA mouse, as well as cells from biopsies of individuals with FSHD. In the past 6 month period, we have allowed a large cohort of mice to develop disease and have begun to evaluate the behavior of individual cells in the muscle tissue that are responsible for development of fat and scar tissue.