Ciliar functions in the nephron.
The primary cilium is a microtubule-based nonmotile organelle that is found on most cells in the mammalian body. Once regarded as a vestigial organelle, it has been recently shown to play unforeseen roles in mammalian physiology and tissue homeostasis. In kidney epithelial cells, the primary cilium plays a fundamental role in tubule organization and function and it is now considered to serve as a versatile mechanosensor and chemosensor. Diseases related to kidney primary cilia include autosomal polycystic kidney disease, recessive polycystic kidney disease, Bardet-Biedl syndrome, and nephronophthisis. Multiple proteins whose functions are disrupted in cystic kidney diseases have been localized in the primary cilium. This review provides a general introduction to the cell biology and function of renal primary cilia and an overview of cilia-related kidney diseases.
Rodat-Despoix
Lise
L
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille, CNRS, UMR, Université de la Méditerranée, France. lise.rodat-despoix@univmed.fr
Delmas
Patrick
P
D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000503:physiopathology; D002628:Chemoreceptor Cells / Q000502:physiology; D002923:Cilia / Q000502:physiology* / Q000648:ultrastructure; D006801:Humans; D008465:Mechanoreceptors / Q000502:physiology; D009399:Nephrons / Q000378:metabolism / Q000502:physiology*; D007690:Polycystic Kidney Diseases / Q000503:physiopathology; D016891:Polycystic Kidney, Autosomal Dominant / Q000503:physiopathology