Abstract:
: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.
journal_name
Trends Mol Medjournal_title
Trends in molecular medicineauthors
Cantiello HFdoi
10.1016/s1471-4914(03)00073-xkeywords:
subject
Has Abstractpub_date
2003-06-01 00:00:00pages
234-6issue
6eissn
1471-4914issn
1471-499Xpii
S147149140300073Xjournal_volume
9pub_type
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