Endocrine Abstracts

Background: Loss of function mutations of the type-2 vasopressin receptor (V2R) in kidney lead to nephrogenic diabetes insipidus (NDI). The function of mutant receptors can be rescued using ligands resulting sufficient amount of plasma membrane localized V2Rs in a conformation which are able to generate cAMP signal. We examined a previously described, not characterized mutation. In order to determine personalized therapy for the individual the properties of the mutant receptor...