Investigator: Dongsheng Guo PhD
Category: Research - Basic
FSHD pathology includes weakness of pharyngeal arch-derived facial muscles and somite-derived scapulohumeral muscles. Facial and somatic muscle development is controlled by different transcription factors: PITX2 for facial muscles, and PAX3 and PAX7 for somatic muscles, suggesting the possibility that the FSHD disease gene, DUX4, is regulated and functions differently in facial and somatic muscles and will be responsive to different therapeutics. Gene-free induction protocols for facial and somatic myogenesis have been developed, providing a unique opportunity to investigate and compare the regulation and disease functions of DUX4 in these two different muscle groups, both of which are affected FSHD disease. Our findings are expected to lay the groundwork for detailed cell and molecular investigations of facial muscle-specific mechanisms of FSHD disease.