A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
نویسندگان
چکیده
Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin administration. While a similar urine exosome release rate was shown between probands and controls by western blotting for the marker ALIX, there was a selective decrease in exosome aquaporin-2 versus aquaporin-1 protein in probands compared to controls.
منابع مشابه
A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant with Nephrogenic Diabetes Insipidus
Arginine vasopressin (AVP) is released from the posterior pituitary. It controls water balance homeostasis. It binds to arginine vasopressin receptor 2 (AVPR2) on the basolateral membrane of the kidney collecting duct and triggers activation of Gs proteins, which leads to increases in intracellular cAMP and the activity of protein kinase A. These increases cause trafficking of aquaporin-2 (AQP2...
متن کاملNovel compound aquaporin 2 mutations in nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus (NDI) is a rare disease that is characterized by the excretion of abnormally large volumes of urine, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). Classical NDI symptoms include polydipsia and polyuria in infants during the first year of life. Acquired NDI is the most common form of this disease in adults. The ...
متن کاملFunctional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level.
The protein product of the AVPR2 gene, coding for the arginine vasopressin receptor type 2, is essential for vasopressin-dependent concentration of the urine. The arginine residue at position 137 in the protein product of this gene is uniquely pivotal for function. The R137H mutant inactivates the receptor conferring congenital nephrogenic diabetes insipidus, whereas activating mutations at thi...
متن کاملNovel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.
Recent evidence has linked novel mutations in the arginine vasopressin receptor 2 gene (AVPR2) and aquaporin-2 gene (AQP2) present in Southeast Asian populations to congenital nephrogenic diabetes insipidus (NDI). To investigate mutations in 2 distinct Chinese pedigrees with NDI patients, clinical data, laboratory findings, and genomic DNA sequences from peripheral blood leukocytes were analyze...
متن کاملAnalysis of a Novel AVPR2 Mutation in a Turkish Family with Nephrogenic Diabetes Insipidus
Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germline mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. The researchers describe a novel mutation in the AVPR2 gene in a three-generational Turkish family with NDI. In the present report, a 22-year-old man is reported with polyuria and bilateral non-obstructive hydron...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Physiological reports
دوره 4 8 شماره
صفحات -
تاریخ انتشار 2016