Gene analysis of renal coloboma syndrome and biomarker development of acute kidney injury

2016 Fiscal Year Final Research Report

• Project/Area Number: 26293126
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Kanazawa University
• Principal Investigator: FURUICHI KENGO 金沢大学, 大学病院, 准教授 (50432125)
• Co-Investigator(Kenkyū-buntansha): 和田 隆志 金沢大学, 医学系, 教授 (40334784) ; 岩田 恭宜 金沢大学, 大学病院, 助教 (90432137) ; 長船 健二 京都大学, 学内共同利用施設等, 教授 (80502947)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 腎コロボーマ症候群 / 急性腎障害 / PAX2 / KIF26B

Outline of Final Research Achievements

In this study, gene analysis of renal coloboma syndrome, which is a rare genetic disease, and biomarker development of acute kidney injury, were evaluated from the viewpoint of PAX2 gene. In this study, four genes other than PAX2 were identified from cases of renal coloboma syndrome. Among them, we reported a case of human KIF 26 B gene mutation, which is the world's first report. In addition, in the study of acute kidney injury by animal models and cultured cell experiments, the roles of the Pax2 gene in pathogenesis of kidney disease and molecular mechanisms were revealed. Moreover, candidates of new biomarkers were discovered. In addition, the possibility of a new biomarker molecule was also evaluated in the study of human acute kidney injury.

Free Research Field

腎臓病学