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Updated: May 13, 2026
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Mouse models of polycystic kidney disease induced by defects of ciliary proteins
1Department of Biological Science, Sookmyung Women's University, Seoul 140-742, Korea.
Abstract:
Polycystic kidney disease (PKD) is a common hereditary disorder which is characterized by fluid-filled cysts in the kidney. Mutation in either PKD1, encoding polycystin-1 (PC1), or PKD2, encoding polycystin-2 (PC2), are causative genes of PKD. Recent studies indicate that renal cilia, known as mechanosensors, detecting flow stimulation through renal tubules, have a critical function in maintaining homeostasis of renal epithelial cells. Because most proteins related to PKD are localized to renal cilia or have a function in ciliogenesis. PC1/PC2 heterodimer is localized to the cilia, playing a role in calcium channels. Also, disruptions of ciliary proteins, except for PC1 and PC2, could be involved in the induction of polycystic kidney disease. Based on these findings, various PKD mice models were produced to understand the roles of primary cilia defects in renal cyst formation. In this review, we will describe the general role of cilia in renal epithelial cells, and the relationship between ciliary defects and PKD. We also discuss mouse models of PKD related to ciliary defects based on recent studies.
Insights
Polycystic kidney disease (PKD) involves kidney cysts due to gene mutations. This review explores how defects in renal cilia, crucial for cell function, contribute to PKD development and cyst formation in mouse models.
Area of Science:
- Nephrology
- Cell Biology
- Genetics
Background:
- Polycystic kidney disease (PKD) is a common hereditary kidney disorder characterized by cyst formation.
- Mutations in PKD1 (polycystin-1) or PKD2 (polycystin-2) are the primary genetic causes of PKD.
- Renal cilia, acting as mechanosensors, are vital for maintaining renal epithelial cell homeostasis.
Purpose of the Study:
- To review the general role of cilia in renal epithelial cells.
- To elucidate the relationship between ciliary defects and the pathogenesis of PKD.
- To discuss PKD mouse models focusing on ciliary defects.
Main Methods:
- Literature review of recent studies on cilia and PKD.
- Analysis of the localization and function of polycystin proteins (PC1/PC2) in renal cilia.
- Examination of various PKD mouse models linked to ciliary dysfunction.
Main Results:
- Most PKD-related proteins are localized to renal cilia or involved in ciliogenesis.
- The PC1/PC2 heterodimer functions as a calcium channel within cilia.
- Disruptions in ciliary proteins, beyond PC1 and PC2, can induce polycystic kidney disease.
Conclusions:
- Renal cilia play a critical role in preventing cyst formation in the kidneys.
- Ciliary defects are strongly implicated in the development and progression of PKD.
- Understanding ciliary function is key to developing novel therapeutic strategies for PKD.
