包装D1
常染色体显性多囊肾病
多囊肾病
生物
纤毛
囊肿
癌症研究
基因剔除小鼠
细胞生物学
肾
内分泌学
医学
病理
遗传学
基因
作者
Adriana M. Hung,Sajani Shah,Alexander G. Bick,Zhiheng Yu,H. C. Chen,Rong Tao,Elvis A. Akwo,Chi‐Yeh Chung,M. E. Matheny,Katalin Suszták,Cassianne Robinson‐Cohen,Sony Tuteja,Edward D. Siew
出处
期刊:Journal of The American Society of Nephrology
日期:2020-10-12
卷期号:32 (1): 41-51
被引量:15
标识
DOI:10.1681/asn.2020040511
摘要
Mutations in PKD1 and PKD2, which encode the transmembrane proteins polycystin-1 and polycystin-2, respectively, cause autosomal dominant polycystic kidney disease (ADPKD). Polycystins are expressed in the primary cilium, and disrupting cilia structure significantly slows ADPKD progression following inactivation of polycystins. The cellular mechanisms of polycystin- and cilia-dependent cyst progression in ADPKD remain incompletely understood.Unbiased transcriptional profiling in an adult-onset Pkd2 mouse model before cysts formed revealed significant differentially expressed genes (DEGs) in Pkd2 single-knockout kidneys, which were used to identify candidate pathways dysregulated in kidneys destined to form cysts. In vivo studies validated the role of the candidate pathway in the progression of ADPKD. Wild-type and Pkd2/Ift88 double-knockout mice that are protected from cyst growth served as controls.The RNASeq data identified cell proliferation as the most dysregulated pathway, with 15 of 241 DEGs related to cell cycle functions. Cdk1 appeared as a central component in this analysis. Cdk1 expression was similarly dysregulated in Pkd1 models of ADPKD, and conditional inactivation of Cdk1 with Pkd1 markedly improved the cystic phenotype and kidney function compared with inactivation of Pkd1 alone. The Pkd1/Cdk1 double knockout blocked cyst cell proliferation that otherwise accompanied Pkd1 inactivation alone.Dysregulation of Cdk1 is an early driver of cyst cell proliferation in ADPKD due to Pkd1 inactivation. Selective targeting of cyst cell proliferation is an effective means of slowing ADPKD progression caused by inactivation of Pkd1.
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