Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus.
The regulation of water excretion by the kidney is one of the few physiologic processes that are prominent in everyday life. This process predominantly occurs in renal collecting duct cells, where transcellular water reabsorption is induced after binding of the pituitary hormone arginine-vasopressin to its vasopressin type-2 receptor and the subsequent insertion of aquaporin-2 (AQP2) water channels in the apical membrane of these cells. Removal of the hormone triggers endocytosis of AQP2 and restores the water-impermeable state of the collecting duct cells. Nephrogenic diabetes insipidus is characterized by the inability of the kidney to concentrate urine in response to vasopressin; the vasopressin type-2 receptor and the AQP2 water channel have both been shown to be involved in this disease. This article focuses on mutations in the vasopressin V2 receptor and aquaporin-2 water channel identified in nephrogenic diabetes insipidus patients, and on the effects of these mutations on the transport and function of these proteins upon expression in cell systems.
Deen
P M
PM
Department of Cell Physiology, University of Nijmegen, The Netherlands. peterd@sci.kun.nl
Knoers
N V
NV
D000595:Amino Acid Sequence; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins / Q000737:chemistry / Q000235:genetics*; D001834:Body Water / Q000502:physiology; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics*; D006801:Humans; D007685:Kidney Tubules, Collecting / Q000502:physiology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D017483:Receptors, Vasopressin / Q000737:chemistry / Q000235:genetics*; D015398:Signal Transduction / Q000502:physiology; D014667:Vasopressins / Q000502:physiology
C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D017483:Receptors, Vasopressin; D014667:Vasopressins