Spatial Transcriptomics in FSHD Skeletal Muscle

Investigator: Silvère M van der Maarel PhD

Category: Research - Basic

Facioscapulohumeral muscular dystrophy is caused by the presence of DUX4 protein in skeletal muscle. DUX4 is normally only detected in early embryogenesis and its inappropriate presence in skeletal muscle damages the muscle fibers. It is, however, difficult to detect DUX4 in skeletal muscle: only 50% of muscle biopsies shows evidence for DUX4 expression. This, combined with cell culture studies of FSHD muscle cells, suggests that DUX4 is non-uniformly present in muscle of FSHD patients. In this project we aim to establish when and where DUX4 is expressed in skeletal muscle of FSHD patients, and to establish the local consequences of DUX4 expression in muscle at the molecular level. We expect that this information will contribute to our understanding of FSHD muscle pathology and will aid trial design for targeted therapies in FSHD.