title: Genetic Mechanisms of ADPKD.
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.
authors.affiliation: Molecular Medicine Laboratory, Department of Life systems, Sookmyung Women's University, Cheongpa-ro 47-gil 100, Youngsan-gu, Seoul, 04310, South Korea.
authors.forename: Do Yeon
authors.initials: DY
authors.lastname: Kim
authors.affiliation: Department of Life systems, Sookmyung Women's University, Cheongpa-ro 47-gil 100, Youngsan-gu, Seoul, 04310, South Korea. parkjh@sookmyung.ac.kr.
authors.forename: Jong Hoon
authors.initials: JH
authors.lastname: Park
mesh_terms: D000818:Animals; D006801:Humans; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D015398:Signal Transduction; D050396:TRPP Cation Channels / Q000235:genetics
chemical_list: D050396:TRPP Cation Channels
keywords: Genetic mechanism; Mutation; PKD; PKD1; PKD2; Polycystin-1; Polycystin-2; Signaling pathways