Poster #041
Analyzing the Effect of Novel Arg20Trp in PAX4
Mentors: Marney Granados, B.S.; PI: Senta Georgia, PhD
MODY9, a rare monogenic form of diabetes, can be caused by mutations in the PAX4 gene, but many variants remain uncharacterized. PAX4 is a transcription factor that regulates insulin production in pancreatic beta cells. A novel mutation, Arg20Trp, was identified in a MODY9 patient at Children’s Hospital with an unknown clinical significance. We hypothesize that this mutation impairs typical PAX4 protein function. To test this, we transfected mouse alpha cells, ATC1.6, with wild-type or mutant PAX4 plasmids. Pax4 transcriptional activity was assessed via insulin-luciferase reporter assays, and protein expression was examined using immunocytochemistry. This study aims to clarify whether Arg20Trp alters PAX4’s role in insulin regulation, offering insight into genetic causes of MODY9.