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Maser Laboratory: Scientific Background

Learn about the Maser Lab's current research on autosomal dominant polycystic kidney disease and polycystin-1.

Autosomal dominant (AD) polycystic kidney disease (PKD) is the most common genetic cause of end-stage renal failure. ADPKD is primarily characterized by the development and enlargement of hundreds of fluid-filled cysts that arise from epithelia-lined tubules within both kidneys. Cystic epithelial cells exhibit abnormal phenotypes that include increased proliferation, transepithelial fluid secretion, extracellular matrix deposition and apoptosis.

ADPKD is a systemic disease associated with cysts in the liver, cerebral aneurysms, hypertension, cardiac valve abnormalites, left ventricle hypertrophy and endothelial dysfunction. 

Mutations within the PKD1 gene, encoding polycystin-1 (PC1) protein, account for 85% of ADPKD cases, while the remainder are due to mutations within the PKD2 gene encoding polycystin-2 (PC2). Although ADPKD is inherited in a dominant fashion, cyst initiation is thought to require the functional level of either PC1 or PC2 protein to drop below a critical threshold.

PC1 is a large, 11-transmembrane domain receptor that activates multiple signaling pathways, including the binding and activation of heterotrimeric G-proteins. PC-2 is a 6-transmembrane, non-selective cation channel.

Together, PC1 and PC2 are believed to form a membrane receptor/ion channel signaling complex and are found at multiple cellular locations, including the primary cilium. Within the primary cilium, the PC1-PC2 complex are thought to mediate fluid shear stress-induced intracellular calcium signaling that is required for maintaining renal cell differentiation and tubular structure.

Robin L. Maser, Ph.D.
Associate Professor
Lab Director

KU School of Health Professions

University of Kansas Medical Center
Clinical Laboratory Science
3901 Rainbow Boulevard
Mailstop 4048
Kansas City, KS 66160
913-588-5220 • 711 TTY