scholarly journals A Novel Mutation in the V2 Vasopressin Receptor Gene in Two Siblings with Nephrogenic Diabetes Insipidus

1995 ◽  
Vol 4 (1) ◽  
pp. 33-37
Author(s):  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Mari Murashita ◽  
Nozomi Shinohara ◽  
Kenji Yuri ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
V2 Vasopressin Receptor

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus

1994 ◽  
Vol 3 (8) ◽  
pp. 1429-1430 ◽  
Author(s):  
David Wenkert ◽  
John J. Merendino ◽  
Andrew Shenker ◽  
Nina Thambl ◽  
Gary L. Robertson ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
Novel Mutations ◽  
V2 Vasopressin Receptor

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

1992 ◽  
Vol 2 (2) ◽  
pp. 103-106 ◽  
Author(s):  
Yang Pan ◽  
Aida Metzenberg ◽  
Soma Das ◽  
Biqi Jing ◽  
Jane Gitschier
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
V2 Vasopressin Receptor

scholarly journals A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus

2017 ◽  
Vol 07 (01) ◽  
pp. e1-e3
Author(s):  
Abdulsalam Abu-Libdeh ◽  
Isaiah Wexler ◽  
Imad Dweikat ◽  
David Zangen ◽  
Bassam Abu-Libdeh
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Collecting Duct ◽  
Failure To Thrive ◽  
Male Infant ◽  
Gene Encoding ◽  
Exon 2 ◽  
Recessive Form ◽  
V2 Vasopressin Receptor

AbstractNephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinian male infant presented in the neonatal period with failure to thrive, vomiting, irritability, fever, and polyuria, and had biochemical findings consistent with NDI. The diagnosis of NDI was established based on the clinical picture, absent response to desmopressin, and a similarly affected elder brother. Sequencing of the AVPR2 gene for the patient and his affected brother revealed a novel missense mutation with replacement of G by A in codon 82 located in exon 2 (TGC → TAC), causing a cysteine to tyrosine substitution (C82Y). Testing of the mother showed that she was the carrier of that mutation. This is the identified AVPR2 mutation in a Palestinian family. Knowledge of these mutations will allow genetic counseling and early diagnosis of affected males.

scholarly journals V2 Vasopressin Receptor (V2R) Mutations in Partial Nephrogenic Diabetes Insipidus Highlight Protean Agonism of V2R Antagonists

2011 ◽  
Vol 287 (3) ◽  
pp. 2099-2106 ◽  
Author(s):  
Kazuhiro Takahashi ◽  
Noriko Makita ◽  
Katsunori Manaka ◽  
Masataka Hisano ◽  
Yuko Akioka ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptor ◽  
V2 Vasopressin Receptor

Functional Rescue of the Constitutively Internalized V2 Vasopressin Receptor Mutant R137H by the Pharmacological Chaperone Action of SR49059

2004 ◽  
Vol 18 (8) ◽  
pp. 2074-2084 ◽  
Author(s):  
Virginie Bernier ◽  
Monique Lagacé ◽  
Michèle Lonergan ◽  
Marie-Françoise Arthus ◽  
Daniel G. Bichet ◽  
...  
Keyword(s):  
Cell Surface ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptor ◽  
Metabolic Labeling ◽  
Pharmacological Chaperone ◽  
Pharmacological Chaperones ◽  
Receptor Mutant ◽  
V2 Vasopressin Receptor ◽  
And Function

Abstract In most cases, nephrogenic diabetes insipidus results from mutations in the V2 vasopressin receptor (V2R) gene that cause intracellular retention of improperly folded receptors. We previously reported that cell permeable V2R antagonists act as pharmacological chaperones that rescue folding, trafficking, and function of several V2R mutants. More recently, the vasopressin antagonist, SR49059, was found to be therapeutically active in nephrogenic diabetes insipidus patients. Three of the patients with positive responses harbored the mutation R137H, previously reported to lead to constitutive endocytosis. This raises the possibility that, instead of acting as a pharmacological chaperone by favoring proper maturation of the receptors, SR49059 could mediate its action on R137H V2R by preventing its endocytosis. Here we report that the β-arrestin-mediated constitutive endocytosis of R137H V2R is not affected by SR49059, indicating that the functional rescue observed does not result from a stabilization of the receptor at the cell surface. Moreover, metabolic labeling revealed that R137H V2R is also poorly processed to the mature form. SR49059 treatment significantly improved its maturation and cell surface targeting, indicating that the functional rescue of R137H V2Rs results from the pharmacological chaperone action of the antagonist.

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