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Updated: Mar 13, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Genetic Mechanisms of ADPKD
1Molecular Medicine Laboratory, Department of Life systems, Sookmyung Women's University, Cheongpa-ro 47-gil 100, Youngsan-gu, Seoul, 04310, South Korea.
Abstract:
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are located in primary cilium. Abnormalities of PC1 or PC2 lead to aberrant signaling through downstream pathways, such as the negative growth regulation, G protein activation, and canonical and non-canonical Wnt pathways. According to the "second hit" model, an additional somatic mutation results in the expansion of cyst growth. In this chapter we discuss the genetic mechanisms and signaling pathways involved in ADPKD.
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