Endocrine Abstracts

The V2 vasopressin receptor (V2-R) mediates the effect of vasopressin on the water reabsorption in the kidney and several mutations in the V2-R have been identified causing nephrogenic diabetes insipidus (NDI). In this study, we investigated a previously not characterized mutation of the. We obtained genomic DNA of a young male patient with NDI, the AVPR2 gene was amplified with PCR and a missense mutation (S127F) was identified. We monitored the cellular localization of the S...

The concentrating function of the kidney is important to maintain the water homeostasis of the body. It is regulated by the arginine-vasopressin system through the type 2 vasopressin receptor (V2R). Loss-of-function mutations of V2R in kidney can lead to nephrogenic diabetes insipidus (NDI) which results several symptoms such as polyuria, polydipsia, and hyposthenuria. In this study, we functionally characterized and investigated the potential rescue of a missense mutation (S1...