Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia

• Published in: Circulation Journal Vol. 79; no. 5; pp. 1125 - 1132
• Main Authors: Ichida, Kimiyoshi, Hisatome, Ichiro, Hamada, Toshihiro, Ninomiya, Haruaki, Kuwabara, Masanari, Niwa, Koichiro, Kato, Masahiko, Ogino, Kazuhide, Yamamoto, Kazuhiro, Higashi, Yukihito, Maharani, Nani, Sugihara, Shinobu
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Circulation Society 2015
• Subjects: Adult; Endothelium, Vascular - metabolism; Endothelium, Vascular - pathology; Endothelium, Vascular - physiopathology; Female; Heterozygote; Human Umbilical Vein Endothelial Cells - metabolism; Human Umbilical Vein Endothelial Cells - pathology; Humans; Hypouricemia; Male; Middle Aged; Mutation; Organic Anion Transporters - genetics; Organic Anion Transporters - metabolism; Organic Cation Transport Proteins - genetics; Organic Cation Transport Proteins - metabolism; Renal Tubular Transport, Inborn Errors - blood; Renal Tubular Transport, Inborn Errors - genetics; Renal Tubular Transport, Inborn Errors - physiopathology; Uric acid; Uric Acid - blood; Uric acid transporter 1; Urinary Calculi - blood; Urinary Calculi - genetics; Urinary Calculi - physiopathology; Vascular function; Vasodilation
• ISSN: 1346-9843; 1347-4820; 1347-4820
• DOI: 10.1253/circj.CJ-14-1267

Background:Uric acid (UA) serves as an antioxidant in vascular endothelial cells. UA transporter 1 (URAT1) encoded by SLC22A12 is expressed in the kidney and vessels and its loss of function causes hypouricemia. The purpose of this study was to examine whether there is any endothelial dysfunction in...