tailieunhanh - báo cáo khoa học: " What lies behind serum urate concentration? Insights from genetic and genomic studies"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: What lies behind serum urate concentration? Insights from genetic and genomic studies | Genome Medicine Review What lies behind serum urate concentration Insights from genetic and genomic studies Kimiyoshi Ichida Address Tokyo University of Pharmacy and Life Science 1432-1 Horinouchi Hachioji Tokyo 192-0392 Japan. Email ichida@ Abstract Many factors including genetic components and acquired factors such as obesity and alcohol consumption influence serum uric acid urate concentrations. Since serum urate concentrations are determined by the balance between renal urate excretion and the volume of urate produced via purine metabolism urate transporter genes as well as genes coding for enzymes involved in purine metabolism affect serum urate concentrations. URAT1 was the first transporter affecting serum urate concentrations to be identified. Using the characterization of this transporter as an indicator several transporters have been shown to transport urate allowing the construction of a synoptic renal urate transport model. Notable re-absorptive urate transporters are URAT1 at apical membranes and GLUT9 at basolateral membranes while ABCG2 MRP4 multidrug resistance protein 4 and NPT1 are secretive transporters at apical membranes. Recent genome-wide association studies have led to validation of the in vitro model constructed from each functional analysis of urate transporters and identification of novel candidate genes related to urate metabolism and transport proteins such as glucokinase regulatory protein GKRP PDZK1 and MCT9. However the function and physiologic roles of several candidates as well as the influence of acquired factors such as obesity foods or alcoholic beverages remain unclear. Introduction Hyperuricemia induces or facilitates gout kidney stones metabolic syndrome hypertension and renal and cardiovascular disease while exercise-induced acute renal failure is a significant complication of renal hypouricemia 1-3 . Although hyperuricemia has been more closely associated with gout and kidney stones it has been recently .

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