Knoers N V, Deen P M
Universitair Medisch Centrum St Radboud, afd. Antropogenetica, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2000 Dec 9;144(50):2402-4.
In the kidney, binding of arginine vasopressin to the vasopressin type-2 receptor (V2R) causes redistribution of aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical cell membrane, a process which initiates urine concentration. This is disturbed in nephrogenic diabetes insipidus due to mutations in the V2R gene, which lies on Xq28 and has a sex-linked recessive heredity, or the AQP2 gene, which lies on chromosome 12 and has an autosomal heredity. In the case of a recessive abnormality the AQP2 protein which does not fold properly, remains in the endoplasmatic reticulum and is then broken down by a protease. For a dominant abnormality the transport signal in the AQP2 protein changes which results in it being found in another part of the cell namely the Golgi apparatus.
在肾脏中，精氨酸加压素与2型加压素受体（V2R）结合会导致水通道蛋白2（AQP2）水通道从细胞内囊泡重新分布到顶端细胞膜，这一过程启动尿液浓缩。在肾性尿崩症中，这一过程会受到干扰，原因是位于Xq28且具有X连锁隐性遗传的V2R基因或位于12号染色体且具有常染色体遗传的AQP2基因发生突变。在隐性异常的情况下，不能正确折叠的AQP2蛋白会留在内质网中，随后被蛋白酶分解。对于显性异常，AQP2蛋白中的转运信号发生变化，导致其出现在细胞的另一部位即高尔基体中。
