Endocrine Abstracts

Using pharmacological chaperones is one of the most common area to rescue trapped proteins from Endoplasmic reticulum (ER) or Golgi apparatus as therapeutic targets in research of some endocrine disorders. Diabetes insipidus is one of these disorders and AVPR2 is seen mostly mutated in hereditary type of the disorder. As proteins go through a journey from ribosome till the place where they function at, AVPR2 also tracks the same way as a G-protein coupled receptor. A mutation ...

Nefrojenic Diabetes insipidus is one of the typical conformational disorders result from protein misfolding and degredation or aggregation due to the mutations in AVPR2. The patients of nephrogenic Diabetes insipidus have difficulty in concentrate of urine and because of this, they have polyuria, hypoosmolar urine and hypernatremia in variable levels. To make them relieved, many treatment strategies have been studying and using dDAVP nasally is one of these strategies. Another...

Diabetes insipidus (DI) is a disorder that characterized by producing large volume of urine for daily due to the problems at the arginine vasopressin (AVP-NPII), aquaporin 2 (AQP2) and arginine vasopressin receptor 2 (AVPR2) genes. These problems can be inherited or acquired. Among these genes, AVPR2 is a G protein coupled receptor and most of the inherited type of DI are caused by mutations in AVPR2 gene. Mutations can cause improper folding of the receptor protein and this s...

: X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by a defect in the vasopressin V2 receptor in renal collecting duct cells which is encoded by the AVPR2 gene (Xq28). More than 200 mutations have been found comprising missense, nonsense, small insertions and deletions, large deletions and complex rearrangements in AVPR2 gene to date. In this study, a 6-year-old boy was referred to the Pediatric Nephrology Department of Kecioren Research...