Investigator: Michael Kyba PhD
Category: Research - Basic
The DUX4 gene causes FSHD when mutations lead to its misexpression, however how DUX4 expression leads to skeletal muscle pathology is currently unknown. Work from our new mouse model, the iDUX4pA mouse, suggests that a cell type within skeletal muscle known as the fibroadipogenic progenitor may be specifically affected. This cell type is responsible for fat and fibrotic tissue accumulation under conditions of pathology in muscle. The studies in this grant will investigate the molecular regulation of fibroadiopgenic progenitors in the iDUX4pA model as well as in fibroadipogenic progenitor cultures that we have established from FSHD biopsies.