The role of microRNA for pediatric idiopathic nephrotic syndrome

• Project/Area Number: 26860800
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: Matsunoshita Natsuki 神戸大学, 医学研究科, 医学研究員 (70622885)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: ネフローゼ症候群 / podocyte / 網羅的診断体制 / 次世代シークエンサー / 小児特発性ネフローゼ症候群 / 蛋白尿惹起因子 / podocyte障害 / マイクロRNA

Outline of Final Research Achievements

It has already been identified that 45 genes are responsible for steroid resistant nephrotic syndrome (SRNS). Among SRNS cases, 30% of them are caused by mutations in some genes. In addition, those cases are resistant to various immunosuppressive therapies and develop to end-stage renal disease but doesn't show SRNS relapse after kidney transplantation.
We have established the comprehensive gene testing system using next generation sequencer and conducted gene tests for 63 families. Among them, we identified gene mutations in 28% of them. Moreover, those cases never responded to immunosuppressive therapies. We will identify molecular mechanisms for the onset of SRNS and character of clinical courses of each gene mutations in Japan.

Research Products

• [Journal Article] Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. (2016)
  • Author(s): Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K
  • Journal Title: Eur J Hum Genet Volume: 24 Issue: 3 Pages: 387-391
  • DOI: 10.1038/ejhg.2015.113
  • Peer Reviewed
• [Journal Article] Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1. (2016)
  • Author(s): Kamiyoshi N, Nozu K, Urahama Y, Matsunoshita N, Yamamura T, Minamikawa S, Ninchoji T, Morisada N, Nakanishi K, Kaito H, Iijima K.
  • Journal Title: Clin Exp Nephrol. Volume: 20 Issue: 2 Pages: 253-257
  • DOI: 10.1007/s10157-015-1160-9
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics (2016)
  • Author(s): Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K
  • Journal Title: Genetics in Medicine Volume: 18 Issue: 2 Pages: 180-188
  • DOI: 10.1038/gim.2015.56
  • Peer Reviewed / Acknowledgement Compliant