Vasopressin type 2 receptor V88M mutation: Molecular basis of partial and complete nephrogenic diabetes insipidus

Nephron - Physiology

Volumn 114, Issue 1, 2010, Pages

  Bockenhauer, Detlef ^a   Carpentier, Eric ^b   Rochdi, Driss ^b   Van'T Hoff, W ^a   Breton, Billy ^b   Bernier, Virginie ^b   Bouvier, Michel ^b   Bichet, Daniel G ^c  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b INSTITUTE FOR RESEARCH IN IMMUNOLOGY AND CANCER   (Canada)

^c HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

Author keywords

Nephrogenic diabetes insipidus; Pharmacological chaperone; Polyuria; Vasopressin; Vasopressin receptor type 2

Indexed keywords

ARGIPRESSIN; CHLOROTHIAZIDE; DESMOPRESSIN; INDOMETACIN; SATAVAPTAN; SODIUM; VASOPRESSIN; VASOPRESSIN V2 RECEPTOR;

ADULT; ARTICLE; BEDTIME DOSAGE; CELL CULTURE; CELL SURFACE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HORMONE BINDING; HUMAN; HUMAN CELL; KIDNEY CONCENTRATING CAPACITY; MALE; MOLECULAR GENETICS; NEPHROGENIC DIABETES INSIPIDUS; PHENOTYPE; POINT MUTATION; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SODIUM BLOOD LEVEL; TREATMENT INDICATION; URINALYSIS; URINE OSMOLALITY; URINE VOLUME; V88M GENE; X CHROMOSOME DOMINANT INHERITANCE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CYCLIC AMP; DEAMINO ARGININE VASOPRESSIN; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, X-LINKED; HEK293 CELLS; HUMANS; INFANT; MALE; MIDDLE AGED; MORPHOLINES; MUTATION; NATRIURESIS; PEDIGREE; PHENOTYPE; POLYURIA; PROTEIN BINDING; RECEPTORS, VASOPRESSIN; RECOMBINANT FUSION PROTEINS; RETROSPECTIVE STUDIES; SECOND MESSENGER SYSTEMS; SPIRO COMPOUNDS; TRANSFECTION; URINE; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 70349846324     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000245059     Document Type: Article

References (21)

1. Bockenhauer D: Diabetes insipidus; in Geary DF, Schaefer F (eds): Comprehensive Pediatric Nephrology. Philadelphia, Mosby Elsevier, 2008, pp 489-498.
2. Bockenhauer D, Cruwys M, Kleta R, Halperin LF, Wildgoose P, Souma T, Nukiwa N, Cheema-Dhadli S, Chong CK, Kamel KS, Davids MR, Halperin ML: Antenatal Bartter's syndrome: why is this not a lethal condition? QJM 2008; 101:927-942.
3. Spanakis E, Milord E, Gragnoli C: AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance. J Cell Physiol 2008; 217: 605-617.
4. Robben JH, Knoers NV, Deen PM: Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol 2006; 291:F257-F270.
5. Bernier V, Morello JP, Zarruk A, Debrand N, Salahpour A, Lonergan M, Arthus MF, Laperriere A, Brouard R, Bouvier M, Bichet DG: Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2006; 17: 232-243.
6. 2 vasopressin receptor mutant r137h by the pharmacological chaperone action of sr49059. Mol Endocrinol 2004; 18:2074-2084.
7. Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994; 55:278-286.
8. 2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J Am Soc Nephrol 1998; 9: 1861-1872.
9. Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Kaplan BS, Robertson GL, Sasaki S, Morgan K, Bichet DG, Fujiwara TM: Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000; 11:1044-1054.
10. 2 vasopressin receptor mutants. J Clin Invest 2000; 105: 887-895.
11. Barak LS, Salahpour A, Zhang X, Masri B, Sotnikova TD, Ramsey AJ, Violin JD, Lefkowitz RJ, Caron MG, Gainetdinov RR: Pharmacological characterization of membrane-expressed human trace amine-associated receptor 1 (TAAR1) by a bioluminescence resonance energy transfer camp biosensor. Mol Pharmacol 2008; 74:585-594.
12. Kocan M, See HB, Seeber RM, Eidne KA, Pfleger KD: Demonstration of improvements to the bioluminescence resonance energy transfer (BRET) technology for the monitoring of Gprotein-coupled receptors in live cells. J Biomol Screen 2008; 13: 888-898.
13. Hamdan FF, Rochdi MD, Breton B, Fessart D, Michaud DE, Charest PG, Laporte SA, Bouvier M: Unraveling Gprotein-coupled receptor endocytosis pathways using realtime monitoring of agonist-promoted interaction between beta-arrestins and AP-2. J Biol Chem 2007; 282: 29089-29100.
14. Birnbaumer M, Gilbert S, Rosenthal W: An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol Endocrinol 1994; 8:886-894.
15. Tahara A, Saito M, Sugimoto T, Tomura Y, Wada K, Kusayama T, Tsukada J, Ishii N, Yatsu T, Uchida W, Ta naka A: Phar macological characterization of the human vasopressin receptor subtypes stably expressed in Chinese hamster ovary cells. Br J Pharmacol 1998;125:1463-1470.
16. Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, Morikawa A: Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. J Clin Endocrinol Metab 1997; 82: 3434-3437.
17. Morello JP, Bichet DG: Nephrogenic diabetes insipidus. Annu Rev Physiol 2001; 63: 607-630.
18. 2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. Am J Physiol Renal Physiol 2005; 289:F265-F272.
19. Bonilla-Felix M: Development of water transport in the collecting duct. Am J Physiol Renal Physiol 2004; 287:F1093-F1101.
20. Svenningsen NW, Aronson AS: Postnatal development of renal concentration capacity as estimated by DDAVP-test in normal and asphyxiated neonates. Biol Neonate 1974; 25: 230-241.
21. Halperin ML, Bichet DG, Oh MS: Integrative physiology of basal water permeability in the distal nephron: implications for the syndrome of inappropriate secretion of antidiuretic hormone. Clin Nephrol 2001; 56: 339-345.