By Ashlyn Rauch

Faculty Mentor: Ginny Morriss

Abstract

Myotonic Dystrophy Type One (DM1) is an autosomal dominant disorder caused by a series of CTG repeats in the dystrophia myotonica protein kinase (DMPK) gene (Lanni and Pearson 2019). Individuals diagnosed with DM1 may display CTG expansions ranging from 50-4000 repeats, whereas unaffected individuals have between 5-37 CTG repeats (Jain and Al Khalili 2021). Our lab uses a Drosophila melanogaster (fruit fly) model to determine the progression of physiological defects in an adult-onset DM1 model. Our DM1 model uses the GAL4/UAS system in Drosophila to drive expression of expanded repeat CUG to mimic DM1. The 1151-Gal4 driver, an X-linked adult-onset driver, will be used for expression in skeletal muscles. We will be establishing genetic crosses in our Drosophila DM1 model with 3 different UAS lines, (CTG60, CTG250, and i(CTG)480, to represent pre-mutation, mild, and severe phenotypes. Our goal is to determine the time course for muscle-specific expression of CUG repeat RNA in Drosophila melanogaster.