Progress Update: A cell culture model of innate immunity for FSHD

Immunity has a well-documented role in FSHD muscle pathology, but there are currently no models of FSHD immunity to enable investigations of the underlying immune responses to FSHD muscle and development of FSHD immune therapeutics. This project has developed two FSHD muscle/blood cell co-culture models that activate innate immunity responses in human immune cells. These findings support our hypothesis that misexpression of DUX4 and its downstream target genes in FSHD muscle cells induces an innate immune response. This meets an unmet need for cell models to explore the role of innate immunity in FSHD muscle degeneration. Investigations into the molecular basis of FSHD innate immunity using co-culture models will be continued with complementary in vivo studies using a humanized FSHD innate immunity mouse model produced using blood and FSHD muscle stem cell xenograft technologies which have recently been funded by an NIH R21 grant.

See grant A cell culture model of innate immunity for FSHD