Cantiello Horacio F
Renal Unit, Massachusetts General Hospital East, 149 13th Street, Charlestown, MA 02129, USA.
Trends Mol Med. 2003 Jun;9(6):234-6. doi: 10.1016/s1471-4914(03)00073-x.
Autosomal dominant polycystic kidney disease (ADPKD) is a common lethal genetic disorder, characterized by the progressive development of fluid-filled cysts in the kidney, pancreas and liver, and anomalies of the cardiovascular system. Mutations in PKD1 and PKD2, which encode the transmembrane proteins polycystin-1 (PC1) and polycystin-2 (PC2) respectively, account for almost all cases of ADPKD. However, the mechanisms by which abnormalities in PKD1 and PKD2 lead to aberrant kidney development remain unknown. Recent progress in the understanding of ADPKD has focused on primary cilia, which act as sensory transducers in renal epithelial cells. New evidence shows that a mechanosensitive signal, cilia bending, activates the PC1-PC2 channel complex. When working properly, this functional complex elicits a transient Ca(2+) influx, which is coupled to the release of Ca(2+) from intracellular stores.
常染色体显性多囊肾病（ADPKD）是一种常见的致死性遗传疾病，其特征是在肾脏、胰腺和肝脏中逐渐形成充满液体的囊肿，以及心血管系统异常。分别编码跨膜蛋白多囊蛋白-1（PC1）和多囊蛋白-2（PC2）的PKD1和PKD2基因发生突变，几乎导致了所有的ADPKD病例。然而，PKD1和PKD2异常导致肾脏发育异常的机制仍不清楚。对ADPKD认识的最新进展集中在初级纤毛上，初级纤毛在肾上皮细胞中作为感觉转导器发挥作用。新证据表明，一种机械敏感信号，即纤毛弯曲，可激活PC1-PC2通道复合物。当该功能复合物正常工作时，会引发短暂的Ca(2+)内流，这与细胞内储存的Ca(2+)释放相关联。
