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Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cheong, Hae Il | - |
dc.contributor.author | Cho, Hee Yeon | - |
dc.contributor.author | Park, Hye Won | - |
dc.contributor.author | Ha, Il Soo | - |
dc.contributor.author | Choi, Yong | - |
dc.date.accessioned | 2010-01-29T01:12:10Z | - |
dc.date.available | 2010-01-29T01:12:10Z | - |
dc.date.issued | 2007-03-21 | - |
dc.identifier.citation | Nephrology (Carlton). 2007 Apr;12(2):113-7. | en |
dc.identifier.issn | 1320-5358 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17371330 | - |
dc.identifier.uri | https://hdl.handle.net/10371/46584 | - |
dc.description.abstract | AIM: X-linked nephrogenic diabetes insipidus is a rare disease caused by mutations in the arginine vasopressin V2 receptor (AVPR2) gene, which encodes vasopressin V2 receptor (V2R). More than a half of reported mutations in AVPR2 are missense mutations, and a large number of missense mutant receptors fail to fold properly and therefore are not routed to the cell surface. METHODS: We analysed the AVPR2 gene in 14 unrelated patients with X-linked nephrogenic diabetes insipidus, and found 13 different mutations including eight missense point mutations. The cellular expression patterns of three missense mutant (A98P, L274P and R113W) and wild-type V2R were determined in transfected COS-7 cells. RESULTS: In contrast to wild-type V2R, the cell-surface expressions of mutant receptors were totally (A98P and L274P) or partially (R113W) absent. Instead, they were retained intracellularly. However, treatment of cells with two chemical chaperones (100 mmol/L trimethylamine oxide or 2% dimethyl sulfoxide) or incubation at 26 degrees C restored the cell-surface expressions of mutant receptors. CONCLUSION: These data show that some chemical chaperones correct the mistrafficking of misfolded A98P, L274P and R113W V2R. Thus, we believe that a therapeutic strategy based on chemical chaperones in patients with these mutations is worth trying. | en |
dc.language.iso | en | en |
dc.publisher | Wiley-Blackwell | en |
dc.subject | Animals | en |
dc.subject | Arginine Vasopressin/genetics/*metabolism | en |
dc.subject | COS Cells | en |
dc.subject | Cell Membrane/metabolism | en |
dc.subject | Cercopithecus aethiops | en |
dc.subject | Diabetes Insipidus, Nephrogenic/genetics/*metabolism | en |
dc.subject | Dimethyl Sulfoxide/*pharmacology | en |
dc.subject | Humans | en |
dc.subject | Male | en |
dc.subject | Methylamines/*pharmacology | en |
dc.subject | Molecular Chaperones/pharmacology | en |
dc.subject | Mutation, Missense | en |
dc.subject | Point Mutation | en |
dc.subject | Protein Folding | en |
dc.subject | Protein Transport/drug effects | en |
dc.subject | Receptors, Vasopressin/chemistry/genetics/*metabolism | en |
dc.subject | Temperature | en |
dc.subject | Transfection | en |
dc.subject | Mutation | - |
dc.title | Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 정해일 | - |
dc.contributor.AlternativeAuthor | 조희연 | - |
dc.contributor.AlternativeAuthor | 박혜원 | - |
dc.contributor.AlternativeAuthor | 하일수 | - |
dc.contributor.AlternativeAuthor | 최용 | - |
dc.identifier.doi | 10.1111/j.1440-1797.2006.00759.x | - |
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