Łukasz Sznajder (Biochemistry) received a High Priority, Short-Term Project Award from the Myotonic Dystrophy Foundation to study myotonic dystrophy type 2 (DM2). DM2 has garnered less attention than myotonic dystrophy type 1 (DM1), lacking approved treatments or clinical trials. The uncertainty persists in applying DM1 therapeutic strategies to DM2. Tailoring approaches to the DM2 molecular mechanism is crucial. Despite commonalities, DM2's mechanism seems more intricate. Evidence points to expanded CCUG RNA repeats' toxicity as the primary cause. The prior research unveiled that these repeats persist in an improperly spliced mRNA exported to the cytoplasm, a vital revelation. Yet, confirmation that this mRNA constitutes a pathogenic molecule in DM2 is pending. This project “Delineating pathogenic RNA species in myotonic dystrophy type 2” aims to validate the hypothesis that mRNA with retained CCUG repeats is a key pathogenic factor in DM2, driving characteristic molecular changes. Additionally, they will develop preventative therapeutic strategies. Leveraging DM2-derived cell lines, and tissues, and employing bioinformatics and molecular biology tools will help achieve these objectives. Identifying primary pathogenic molecules will enhance the understanding of DM2 and lay the groundwork for therapeutic development.
