HNF1B型
转录因子
肾脏疾病
调节器
肾
疾病
生物
终末期肾病
医学
孟德尔遗传
转录组
机制(生物学)
生物信息学
肾结石
内科学
癌症研究
免疫学
良性循环与恶性循环
同源盒
抄写(语言学)
细胞生物学
高钾血症
作者
Pierre Isnard,Munevver Parla Makinistoglu,Michel Leibovici,Jonathan Levinsohn,Nicolas Zimmermann,Camille Cohen,Serge Garbay,Clément Nguyen,Deborah Gaglioti,Magali Chiral,Armelle Grevellec-Christophorou,Arianna Fiorentino,Dorien J.M. Peters,Evelyne Fischer,Frank Bienaimé,Katalin Suszták,Fabiola Terzi,Marco Pontoglio
出处
期刊:Science
[American Association for the Advancement of Science]
日期:2026-04-16
卷期号:392 (6795): eaea3219-eaea3219
标识
DOI:10.1126/science.aea3219
摘要
Chronic kidney disease (CKD), which affects more than 10% of the global population, may continue to progress even after the triggering insult has resolved, suggesting the involvement of self-sustaining mechanisms that remain poorly understood. Here, we identify this molecular circuitry, centered on the transcription factor HNF1B, a key regulator of renal epithelial identity. In adult kidneys, HNF1B loss disrupts epithelial differentiation and quiescence, induces replication stress, and triggers CKD. Conversely, CKD itself epigenetically suppresses HNF1B activity, creating a vicious cycle that amplifies disease progression. In a cohort of 900 patients, lower HNF1B activity correlated with greater CKD severity, linking this mechanism to common forms of the disease. These findings unify rare Mendelian and common complex kidney disorders and identify HNF1B loss as a driver of CKD.
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