Poster #001
Characterizing Novel PAX4 Arg20Trp Mutation Found in a MODY9 Patient
Mentors: Marney Granados, B.S and Senta Georgia, PhD
Diabetic patients with MODY9 are associated with mutations in PAX4, a transcription factor involved in glucose regulation partly through suppressing insulin production. A patient at CHLA presenting with atypical MODY9 was found to carry a novel PAX4 mutation, Arg20Trp, whose consequences have yet to be profiled. We aim to investigate the impact of Arg20Trp on the function of wild-type PAX4 protein, and hypothesize that the mutation interferes with PAX4’s ability to regulate insulin expression. We transfected ATC1.6, mouse-derived alpha cells, with wild-type and mutant PAX4 plasmids and assessed protein expression through immunocytochemistry and transcriptional activity with an insulin-luciferase assay. Our findings may help clarify the functional consequences of rare PAX4 variants and underscore the importance of characterizing novel mutations in diabetic patients.