By Delaney Baratka

Faculty Mentor: Dr. Ginny Morriss

Abstract

Myotonic Dystrophy Type One, DM1, is a progressive, multisystemic, and autosomal dominant disorder caused by expansion of CTG-repeats in the 3′-UTR of the DMPK gene. While we understand the causal mutation that leads to DM1, the underlying mechanisms of disease progression remain unclear. Prior research in a mouse model of DM1 identified deregulated PDGFR- β signaling. PDGFR-β plays a role in cell survival and differentiation. Another study implicated the ligand for Pvr, the Drosophila ortholog of PDGFR-β, as a modifier of DM1 phenotypes. The study evaluated the role of the Pvr signaling pathway in Drosophila muscle phenotypes, helping us better understand its role. The Drosophila DM1 model uses the Gal4/UAS system to express the expanded CUG repeats. The use of the fruit fly model allows us to study the signaling pathway in a more simplified view to understand its role in normal muscle functions. We modulated the expression of pvr by RNAi knockdown (pvr-RNAi) in flies lacking the DM1 CUG repeats. Our main goal was to determine the role of Pvr signaling in proper skeletal muscle structure and function.