Department of Nephrology, University Hospital Freiburg, Freiburg,Germany.
Nephrol Dial Transplant. 2013 Mar;28(3):518-26. doi: 10.1093/ndt/gfs524. Epub 2013 Jan 12.
Since the discovery that proteins mutated in different forms of polycystic kidney disease (PKD) are tightly associated with primary cilia, strong efforts have been made to define the role of this organelle in the pathogenesis of cyst formation. Cilia are filiform microtubular structures, anchored in the basal body and extending from the apical membrane into the tubular lumen. Early work established that cilia act as flow sensors, eliciting calcium transients in response to bending, which involve the two proteins mutated in autosomal dominant PKD (ADPKD), polycystin-1 and -2. Loss of cilia alone is insufficient to cause cyst formation. Nevertheless, a large body of evidence links flow sensing by cilia to aspects relevant for cyst formation such as cell polarity, Stat6- and mammalian target of rapamycin signalling. This review summarizes the current literature on cilia and flow sensing with respect to PKD and discusses how these findings intercalate with different aspects of cyst formation.
自从发现不同形式多囊肾病 (PKD) 中突变的蛋白质与初级纤毛紧密相关以来,人们已经做出了巨大的努力来定义这个细胞器在囊肿形成中的作用。纤毛是丝状微管结构,锚定在基底体上,并从顶膜延伸到管状腔中。早期的工作表明,纤毛作为流动传感器,对弯曲作出钙瞬变反应,涉及常染色体显性多囊肾病 (ADPKD) 中突变的两种蛋白质,多囊蛋白-1 和 -2。单独失去纤毛不足以引起囊肿形成。然而,大量证据将纤毛的流动感应与与囊肿形成相关的方面联系起来,例如细胞极性、Stat6 和哺乳动物雷帕霉素靶蛋白信号。这篇综述总结了关于 PKD 的纤毛和流动感应的当前文献,并讨论了这些发现如何与囊肿形成的不同方面相互交织。