Elucidating the Role of Spinner in Cystic Kidneys : Using a Zebrafish Model to Better Understand Polycystic Kidney Disease

Abstract

Patients with autosomal domain polycystic kidney disease (ADPKD) suffer from disrupted kidney function due to large, fluid-filled cysts that form in the collecting ducts and kidney tubules. There is no known cure and current treatments for the disease only manage cyst growth but do not prevent cyst formation. In collaboration with the Sussman and Ekker labs at Mayo Clinic (Rochester), we have begun to characterize the changes that take place during kidney cyst formation using spinner, a zebrafish mutant that develops kidney cysts. Previous work in our lab identified a region of chromosome 17 that appears to be deleted in spinner mutant zebrafish. This region contains at least 6 protein coding genes. We hypothesize that deletion of one or more of these genes causes the spinner phenotypes. None of these genes has previously been identified to play a role in cystic kidney disease. Thus, if we can identify the causative gene(s), we can potentially understand more about the disease. Utilizing DNA extraction and PCR techniques we are working to redefine the deletion boundaries.