Analysis of Downstream Pathway of BMP family affecting to Nephrotic Syndrome

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09245
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: The University of Tokyo
• Principal Investigator: NOIRI Eisei 東京大学, 医学部附属病院, 特任研究員 (00301820)
• Research Collaborator: TOKUNAGA Katsushi
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: ヘパラン硫酸プロテオグリカン / スルファターゼ / ネフローゼ症候群 / グリピカン / Wnt

Outline of Final Research Achievements

We have recently reported causative nephrotic proteinuric association of rs16946160 in severe phenotype. It was further proven in diabetic kidney disease in massive proteinuric phenotype. Likewise, the SULF2 was further suggested as the haplotype between SULF-PREX1 as susceptible to nephrotic proteinuria. But this region was defective to tag SNP information and LD structure for fine analysis. The current study conducted re-sequencing of this region using Ion Proton and determined LD structure. Then we concluded that there is no higher disease susceptible variant superior to this haplotype. We used mice nephrotic model previously established in BDF1 strain and found that deletion of SULF2 could induce glomerular epithelial injury to nephrotic proteinuria of which downstream was involved in BMP6 through Wnt/beta catenin pathway. This study also meticulously investigated PLA2R1 and HLA in membranous nephropathy, a representative phenotype of adult nephrotic syndrome.

Free Research Field

腎臓内科学