0000000000467471
AUTHOR
Elizabeth B. Yerkes
Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men
Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ont…
Angiotensin type 2 receptor is important in the normal development of the ureter
In humans, the actions of angiotensin II are transduced through the AT1 and AT2 receptors which have recently been implicated in renal organogenesis. Polymorphisms in the human angiotensin II receptor genes have been linked to cardiovascular and nephrological disorders. In this study we evaluated 35 patients with either primary obstructive megaureter or posterior urethral valves. Each was genotyped for the A1166 AT1 polymorphism and the recently described A-1332G AT2 transition. The incidence of these genetic variants was also evaluated in normal controls without any ultrasonographic urological abnormalities. Similar to our previous findings in congenital urological abnormalities, the AT1 r…
Angiotensin II, type 2 receptor in the development of vesico-ureteric reflux
Objective To investigate if mutation of the angiotensin II (Ang II) receptors AT2 is involved in primary vesico-ureteric reflux (VUR) in humans. Patients and methods Genetic polymorphisms in the AT1 and AT2 receptors was evaluated in 23 patients having the most common congenital urological abnormality, namely primary congenital VUR. The occurrence of the A1166C transition in the AT1 receptor gene and the A-1332G transition in the AT2 receptor gene were evaluated and compared with the incidence in normal controls with no urological abnormalities. Result The distribution of the AT1 receptor genotypes was no different between patients with VUR and healthy controls. Furthermore, 10 of 23 (44%) …