Mouse models of polycystic kidney disease induced by defects of ciliary proteins

Abstract

Polycystic kidney disease (PKD) is a common hereditarydisorder which is characterized by fluid-filled cysts in thekidney. Mutation in either PKD1, encoding polycystin-1 (PC1),or PKD2, encoding polycystin-2 (PC2), are causative genes ofPKD. Recent studies indicate that renal cilia, known asmechanosensors, detecting flow stimulation through renaltubules, have a critical function in maintaining homeostasis ofrenal epithelial cells. Because most proteins related to PKD arelocalized to renal cilia or have a function in ciliogenesis.PC1/PC2 heterodimer is localized to the cilia, playing a role incalcium channels. Also, disruptions of ciliary proteins, exceptfor PC1 and PC2, could be involved in the induction ofpolycystic kidney disease. Based on these findings, variousPKD mice models were produced to understand the roles ofprimary cilia defects in renal cyst formation. In this review, wewill describe the general role of cilia in renal epithelial cells,and the relationship between ciliary defects and PKD. We alsodiscuss mouse models of PKD related to ciliary defects basedon recent studies. [BMB Reports 2013; 46(2): 73-79]

Keywords

• Intraflagellar transport
• Polycystic kidney disease
• Polycystin-1
• Polycystin-2
• Primary cilia