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Genetic Mechanisms of ADPKD

Authors
Kim, Do YeonPark, Jong Hoon
Issue Date
Oct-2016
Publisher
SPRINGER-VERLAG SINGAPORE PTE LTD
Keywords
Genetic mechanism; PKD; Mutation; PKD1; PKD2; Polycystin-1; Polycystin-2; Signaling pathways
Citation
CYSTOGENESIS, v.933, pp 13 - 22
Pages
10
Journal Title
CYSTOGENESIS
Volume
933
Start Page
13
End Page
22
URI
https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/9409
DOI
10.1007/978-981-10-2041-4_2
ISSN
0065-2598
2214-8019
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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