Current Hypertension Reports

, Volume 6, Issue 1, pp 21–26

Genetics of vasopressin receptors

  • Marc Thibonnier
Article

DOI: 10.1007/s11906-004-0006-8

Cite this article as:
Thibonnier, M. Current Science Inc (2004) 6: 21. doi:10.1007/s11906-004-0006-8

Abstract

Membrane receptors that couple to guanine nucleotide binding protein (GPCRs) represent one of the largest families of proteins in the genome. Because of their universal distribution and multiple actions, genetic variations of GPCRs are associated with various human diseases. For instance, the clinical phenotype of congenital nephrogenic diabetes insipidus has been linked to more than 155 loss-of-function putative mutations of the arginine vasopressin (AVP) V2 receptor, which span each and every segment of this seven-transmembrane domain receptor. These mutant receptors, which are mostly trapped in the endoplasmic reticulum, can be rescued by membranepermeant nonpeptidic AVP receptor antagonists. An overexpression of V1-vascular and V3-pituitary AVP receptors has been observed in some endocrine tumors. The single nucleotide polymorphism of AVP receptors in the context of complex genetic traits is currently being investigated, and preliminary findings have been reported in arterial hypertension and autism.

Copyright information

© Current Science Inc 2004

Authors and Affiliations

  • Marc Thibonnier
    • 1
  1. 1.Division of Clinical and Molecular Endocrinology, Department of MedicineCase Western Reserve University School of MedicineClevelandUSA