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...

Diabetes insipidus (DI) is a rare disorder which is characterized with inability to concentrate urine because of severe liquid-balance impairment. Mutations in AVPR2 gene is one of the causes of DI. AVPR2 is a G protein coupled receptor (GPCR) and its specific agonist is arginine vasopressin (AVP). When AVP binds to the AVPR2, which locates on the basolateral side of collecting duct principal cells of the kidney, it triggers accumulation of cAMP in the cell as a seconder messe...

Changes in arginine vazopression type 2 receptor (AVPR2) gene mostly lead to a rare hereditary polyuric disease, X-linked nephrogenic diabetes insipidus (NDI). The disease is characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. In our previous study we have identified a novel 388 bp deletion in the AVPR2 gene in a patient with NDI and in his family. For fu...

Diabetes insipidus is a disorder characterised by severe liquid-imbalance because of the inability to concentrate urine. Inactivating mutations in either arginine vasopressin receptor type 2 (AVPR2) or aquaporin 2 (AQP2) gene can cause congenital Nephrogenic diabetes insipidus (NDI). AVPR2 is a G protein-coupled receptor (GPCR) and is mainly expressed at the basolateral site of the kidneys collecting duct principal cells. Activation of this receptor by vasopressin is responsib...

: 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...

Familial central or neurohypophyseal diabetes insipidus (FNDI) results from insufficient production of antidiuretic hormone arginine vasopressin, which is caused by mutations in arginine vasopressin-neurophysin II gene (AVP-NPII). In this study, we present the clinical features of a male Turkish patient with autosomal dominant neurohypophyseal DI caused by a novel mutation (p.E108D). The prospective clinical data were collected for the proband patient and his family members. T...

Diabetes insipidus (DI) is a disorder which is rarely seen and it is characterized by polydipsia and polyuria. Inadequate secretion of arginine vasopressin (AVP) from hypothalamus or inadequate response of kidney cells to AVP could be causes of DI. Therefore, any mutations in AVPR2, AVP and AQP2 genes which are the parts of that stimulation and response pathyway can cause DI. In this study, mutational analyse was performed for A45T mutation in AQP2 gene. We present a novel hom...