ECE2016 Eposter Presentations Diabetes (to include epidemiology, pathophysiology) (83 abstracts)
Functional characterization of a large deletion in the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family
Emel Saglar 1 , Beril Erdem 1 , Tugce Karaduman 1 , Merve Ozcan 1 , Ferhat Deniz 2 & Hatice Mergen 1
1Department of Biology, Hacettepe University, Ankara, Turkey; 2Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey.
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 functional analyze studies, identified deletion was re-created by PCR based site-directed mutagenesis and restriction fragment replacement strategy based on DNA sequence and expressed in COS7 cells. We performed total and surface ELISA assay and cAMP assay for assessing the ability of transfected cells to produce cAMP in response to stimulation with DDAVP. Results of functional characterization of 388 bp deletion have revealed that mutant V2R did not show any expression on the cell surface compared to the wild type receptor while showed reduced cellular expression in total (31.93±8.8%) compared to the wild type receptor. cAMP accumulation assay results are supported the ELISA results of the mutant receptor protein. In conclusion we believe that our study will contribute to shedding light on mechanisms of molecular pathology of AVPR2 deletions.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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