scholarly journals Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus

2003 ◽  
Vol 50 (4) ◽  
pp. 473-476 ◽  
Author(s):  
Toshihiro TAJIMA ◽  
Kouji OKUHARA ◽  
Kouhei SATOH ◽  
Jun NAKAE ◽  
Kenji FUJIEDA
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Japanese Patient ◽  
Aquaporin 2

scholarly journals New autosomal recessive mutations in aquaporin‐2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes

2010 ◽  
Vol 588 (12) ◽  
pp. 2205-2218 ◽  
Author(s):  
Alexandre Leduc‐Nadeau ◽  
Yoann Lussier ◽  
Marie‐Françoise Arthus ◽  
Michèle Lonergan ◽  
Alejandro Martinez‐Aguayo ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Xenopus Oocytes ◽  
Aquaporin 2 ◽  
Recessive Mutations ◽  
Normal Expression

scholarly journals Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation*

1997 ◽  
Vol 82 (2) ◽  
pp. 686-689 ◽  
Author(s):  
Ze’ev Hochberg ◽  
Anita van Lieburg ◽  
Lea Even ◽  
Benjamin Brenner ◽  
Naomi Lanir ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Aquaporin 2

scholarly journals Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus--update and epidemiology

2012 ◽  
Vol 5 (3) ◽  
pp. 195-202 ◽  
Author(s):  
D. G. Bichet ◽  
A. El Tarazi ◽  
J. Matar ◽  
Y. Lussier ◽  
M.-F. Arthus ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Autosomal Recessive ◽  
Aquaporin 2 ◽  
New Mutations

scholarly journals Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

2005 ◽  
Vol 20 (6) ◽  
pp. 1076 ◽  
Author(s):  
Hae Il Cheong ◽  
Su Jin Cho ◽  
Shou Huan Zheng ◽  
Hee Yeon Cho ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

2003 ◽  
Vol 163 (5) ◽  
pp. 1099-1109 ◽  
Author(s):  
Erik-Jan Kamsteeg ◽  
Daniel G. Bichet ◽  
Irene B.M. Konings ◽  
Hubert Nivet ◽  
Michelle Lonergan ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Water Conservation ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Channel ◽  
Apical Plasma Membrane ◽  
Apical Surface ◽  
Aquaporin 2 ◽  
Frame Shift ◽  
Polarized Delivery ◽  
Mutant Forms

Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease characterized by the inability to concentrate urine. Here, we report a frame-shift mutation in AQP2 causing dominant NDI. This AQP2 mutant is a functional water channel when expressed in Xenopus oocytes. However, expressed in polarized renal cells, it is misrouted to the basolateral instead of apical plasma membrane. Additionally, this mutant forms heterotetramers with wild-type AQP2 and redirects this complex to the basolateral surface. The frame shift induces a change in the COOH terminus of AQP2, creating both a leucine- and a tyrosine-based motif, which cause the reversed sorting of AQP2. Our data reveal a novel cellular phenotype in dominant NDI and show that dominance of basolateral sorting motifs in a mutant subunit can be the molecular basis for disease.

scholarly journals Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus

2017 ◽  
Vol 313 (4) ◽  
pp. F914-F925 ◽  
Author(s):  
Yu Lin ◽  
Tiezheng Zhang ◽  
Pinning Feng ◽  
Miaojuan Qiu ◽  
Qiaojuan Liu ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Collecting Duct ◽  
Renin Inhibitor ◽  
Protein Abundance ◽  
Aquaporin 2 ◽  
Direct Renin Inhibitor ◽  
Collecting Ducts ◽  
Dry Food ◽  
Concentrating Defect

The direct renin inhibitor aliskiren has been shown to be retained and persist in medullary collecting ducts even after treatment is discontinued, suggesting a new mechanism of action for this drug. The purpose of the present study was to investigate whether aliskiren regulates renal aquaporin expression in the collecting ducts and improves urinary concentrating defect induced by lithium in mice. The mice were fed with either normal chow or LiCl diet (40 mmol·kg dry food−1·day−1 for 4 days and 20 mmol·kg dry food−1·day−1 for the last 3 days) for 7 days. Some mice were intraperitoneally injected with aliskiren (50 mg·kg body wt−1·day−1 in saline). Aliskiren significantly increased protein abundance of aquaporin-2 (AQP2) in the kidney inner medulla in mice. In inner medulla collecting duct cell suspension, aliskiren markedly increased AQP2 and phosphorylated AQP2 at serine 256 (pS256-AQP2) protein abundance, which was significantly inhibited both by adenylyl cyclase inhibitor MDL-12330A and by PKA inhibitor H89, indicating an involvement of the cAMP-PKA signaling pathway in aliskiren-induced increased AQP2 expression. Aliskiren treatment improved urinary concentrating defect in lithium-treated mice and partially prevented the decrease of AQP2 and pS256-AQP2 protein abundance in the inner medulla of the kidney. In conclusion, the direct renin inhibitor aliskiren upregulates AQP2 protein expression in inner medullary collecting duct principal cells and prevents lithium-induced nephrogenic diabetes insipidus likely via cAMP-PKA pathways.

scholarly journals Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Sookkasem Khositseth ◽  
Panapat Uawithya ◽  
Poorichaya Somparn ◽  
Komgrid Charngkaew ◽  
Nattakan Thippamom ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Early Event ◽  
Aquaporin 2 ◽  
Autophagic Degradation
Sign in / Sign up

Export Citation Format

Share Document