Safety and efficacy of a possible epigenetic therapy for FSHD muscular dystrophy

• Applicant: Professor Dr. Gunnar Schotta
• Subject Area: Orthopaedics, Traumatology, Reconstructive Surgery ; Biochemistry
• Term: since 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 461068377

Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent muscle disease that afflicts both children and adults regardless of their gender. FSHD is caused by aberrant gain of expression of the double homeobox 4 (DUX4) gene causing toxic effects in muscle cells. Despite the consensus on the pivotal role of DUX4 and several clinical trials, there is currently no cure or effective therapeutic approach for FSHD patients.In our studies, we identified a novel regulator of DUX4 expression. We found that targeting this factor genetically or pharmacologically allows to block DUX4 expression and rescues the pathogenic behavior of muscle cells from FSHD patients. We also found that the treatment is safe to healthy muscle cells. Based on our results, we will use cellular and animal models of the disease with the aim to investigate a novel pharmacological approach that could represent a promising therapeutic option for FSHD patients.

• DFG Programme: Research Grants
• International Connection: Canada, Italy, Turkey
• Cooperation Partners: Dr. Rima Al-Awar, Ph.D.; Dr. Serpil Eraslan, Ph.D.; Professor Dr. Davide Gabellini, Ph.D.; Dr. Gabriele Siciliano