Maternal antioxidant treatment partially rescues developmental defects in a Drosophila Polr1D mutant model.

Abstract

Drosophila melanogaster is a versatile in vivo platform for small-molecule screening across many disease models. Here, we utilized a Drosophila model carrying a clinically relevant mutation in Polr1D to test the antioxidant N-acetyl- L -cysteine (NAC) for therapeutic potential. Treating heterozygous Polr1D mothers with NAC partially suppressed the developmental defects of their homozygous Polr1D mutant larvae. These findings are consistent with antioxidant rescue effects observed in zebrafish and mouse models of Treacher Collins Syndrome (TCS). Our results demonstrate the value of a Polr1D mutant Drosophila model for identifying chemical suppressors and accelerating the discovery of promising therapeutics in disorders like TCS.