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...

Angiotensin II (AngII) is an octapeptide hormone, which participates in physiological and pathological mechanisms. AngII exerts a number of biological effects through the type 1 angiotensin II receptor (AT1R). One of the main targets of AngII are vascular smooth muscle and its stimulation activates numerous signaling pathways that cause contraction and could also result in gene expression changes in vascular smooth muscle cells (VSMCs). Next-generation sequencing (NGS) experim...

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...

Angiotensin II (AngII) mainly acts through type 1 angiotensin II receptor (AT1R) to promote a broad variety of biological effects. The vascular smooth muscle cells are one of the main target of AngII and its stimulation activates numerous signaling pathways which could result in gene expression changes in these cells. We carried out Affymetrix GeneChip experiments to analyze the effects of AngII stimulation on gene expression. More than 200 genes were upregulated in response t...

Receptor endocytosis plays an important role in regulating the responsiveness of cells to specific hormones. Phosphatidylinositol 4, 5-bisphosphate (PtdIns(4, 5)P2) has been shown to be critical for many endocytic processes including the internalization of G protein-coupled receptors (GPCRs). We have previously shown that depletion of PtdIns(4, 5) P2 by the chemically induced plasma membrane recruitment of a 5-phosphatase domain prevents the internalizati...

It is generally believed that the signal transduction of AT1 angiotensin receptor (AT1R), the major receptor of angiotensin II, requires ligand binding and subsequent adoption of its active conformation. Activated AT1R induces a plethora of signaling pathways, in contrast to inactive AT1R, which was thought to be silent in terms of signaling. We hypothesized that unliganded, but phosphorylated AT1R may recruit β-arrestins, the key proteins of receptor desensitization, int...