Identification of new causative gene for congenital anomalies of the kidney and urinary tract (CAKUT) and elucidation for pathology of CAKUT by iPS cells

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09261
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: Kobe University
• Principal Investigator: Morisada Naoya 神戸大学, 医学研究科, 客員准教授 (00389446)
• Co-Investigator(Kenkyū-buntansha): 庄野 朱美 関西医科大学, 医学部, 研究員 (10535066)
• Co-Investigator(Renkei-kenkyūsha): Iijima Kazumoto 神戸大学, 大学院医学研究科, 教授 (00240854)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: CAKUT / 小児CKD

Outline of Final Research Achievements

Congenital anomalies of the kidney and urinary tract (CAKUT) is an important disease as a cause of chronic kidney disease (CKD), but its detailed cause is still unknown. The purpose of this study was to clarify the genetic background of CAKUT in Japan, and to reveal new causative genes of CAKUT and perform gene functional analysis using iPS cells. We analyzed 531 families with CAKUT, nephronophthisis (NPHP) or polycystic kidneys (PKD), which are clinically similar disorder with CAKUT, in the whole research period using next generation sequencing. We identified causative genes in 185 families. The diagnoses in some patients were changed from CAKUT to NPHP or PKD after genetic analysis, so genetic diagnosis was extremely useful. However, no new candidate gene could be identified in this study, and CAKUT related iPS cells could not be established.

Free Research Field

臨床遺伝学