News from the cyst: insights into polycystic kidney disease.
Autosomal recessive and autosomal dominant polycystic kidney disease (ADPKD and ARPKD) are 2 major variants of inherited diseases leading to the cystic degeneration of the kidney and other organs. Primary cilia have moved into the focus of research as it is becoming increasingly clear that dysfunction of this special cell organelle represents the main underlying mechanism of disease. At the same time, we also learn that the primary cilium plays an important role in the regulation of cell proliferation and transport processes along the nephron in the healthy kidney. Three recent publications implicate 2 novel players in ciliogenesis and cyst formation: the von Hippel Lindau tumor suppressor gene (pVHL) and collectrin.
Wagner
Carsten A
CA
Institute of Physiology and Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Wagnerca@access.unizh.ch
D000818:Animals; D002923:Cilia / Q000502:physiology; D006801:Humans; D008562:Membrane Glycoproteins / Q000502:physiology; D007690:Polycystic Kidney Diseases / Q000209:etiology*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000502:physiology
C429534:CLTRN protein, human; D008562:Membrane Glycoproteins; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human