The development of the generative model for the renal tissue of ADPKD by juman iPS cell

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10632
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Urology
• Research Institution: Juntendo University
• Principal Investigator: HORIE SHIGEO 順天堂大学, 医学(系)研究科(研究院), 教授 (40190243)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 常染色体優性多発性嚢胞腎 / modifier gene / エクソンシークエンス / トルバプタン / 総腎容積

Outline of Final Research Achievements

ADPKD (Autosomal Dominant Polycystic Kidney Disease) is a most frequent hereditary renal disease. Even within the same family, the age leading to end-stage renal failure is different. So it is believed that modifier genes other than disease genes influence disease progression. In this study, I performed exome sequencing on 100 cases and examined the influence of modifier 114 genes. In the mutation group of modifier genes, the increase rate of total kidney volume was significantly lower than that of the control group. So, the variation of modifier genes were considered to be a surrogate marker of tolvaptan efficacy.

Free Research Field

腎嚢胞性疾患