Identification of novel causative genes and elucidation of mechanism in end-stage kidney disease using disease-specific iPS cells

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K22897
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0902:General internal medicine and related fields
• Research Institution: Kanazawa University
• Principal Investigator: Yuta Yamamura 金沢大学, 附属病院, 医員 (40881058)
• Project Period (FY): 2020-09-11 – 2022-03-31
• Keywords: PAX2遺伝子 / 腎コロボーマ症候群 / 遺伝性腎疾患 / iPS細胞

Outline of Final Research Achievements

The aim of this study is to elucidate the cause and pathophysiology of end-stage kidney disease (ESKD). We focused on that 1) some ESKD patients with unknown etiology probably have genetic kidney diseases, and 2) PAX2-regulated genes may cause genetic kidney diseases.
We established disease specific iPSCs from renal coloboma syndrome patients with PAX2 mutation and identified PAX2-regulated genes during kidney development.These knowledges are useful for the identification of novel causative genes for genetic kidney diseases.

Free Research Field

腎臓病

Academic Significance and Societal Importance of the Research Achievements

本研究で同定したPAX2制御遺伝子群の知見は、解析困難なヒト腎発生過程を、疾患特異的iPS細胞を用いて模倣することにより解析可能としており、学術的に意義の高い研究である。ヒト腎発生過程におけるPAX2遺伝子の意義を評価する上で重要な知見である。さらに、腎発生過程のみならず、PAX2遺伝子の関与が報告されている急性腎障害後の腎再生を考える上でも有用な知見となる可能性があり、今回の研究成果を基盤とした種々の研究進展が期待される。