Laying the Groundwork for Investigating the Link Between Genes and Polycystic Kidney Disease

Abstract

Our lab studies human polycystic kidney disease using zebrafish and C. elegans as models. Patients with autosomal dominant polycystic kidney disease (ADPKD) suffer from disrupted kidney function due to large, fluid-filled cysts that form in the collecting ducts and kidney tubules. Current treatments for the disease manage cyst growth but do not prevent cyst formation. Although the specific mutations that underlie polycystic kidney disease have been identified, the intervening steps between the altered gene and the disease symptoms remain unclear. We are particularly interested in the link between primary cilia and kidney cysts. This year, we worked to amplify target zebrafish genes, maintain healthy zebrafish and nematode populations, and study the effects in C. elegans of downregulating cilia-related genes through RNA interference (RNAi).