ECE2016 Eposter Presentations Diabetes (to include epidemiology, pathophysiology) (83 abstracts)
Molecular and clinical identification of A45T mutation in AQP2 gene
Tugce Karaduman 1 , Merve Ozcan 1 , Emel Saglar 1 , Beril Erdem 1 , Ferhat Deniz 2 , Arif Yonem 2 , Kamil Baskoy 2 , Seyit Ahmet Ay 2 , Ofcan Oflaz 1 & Hatice Mergen 1
1Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara 06800, Turkey; 2Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul 34668, Turkey.
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 homozygous missense mutation at codon 45, which causes the substitution of Ala (GCC) by a Thr (ACC) in exon 1 in a male Turkish patient with nephrogenic diabetes insipidus (NDI). Some of family members of this patient had also polyuria, nocturia, polydipsia, fatigue as well. The patient had severe polyuria polydipsia, fatique, and deep thirstiness from his infancy. While being performed water deprivation test, diagnosis of NDI was confirmed according to increase in urine osmolality after desmopressin acetate injection. We also did some bioinformatical analysis and we predicted three-dimensional structure of the mutant AQP2 protein. We suggest that functional characterization studies will enlight the function of the mutant AQP2 protein.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more