Intracellular role of CBWD1, a novel causative gene of congenital anomalies of the kidney and urinary tract

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K09689
• 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: Kanda Shoichiro 東京大学, 医学部附属病院, 助教 (60632651)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 先天性腎尿路異常 / 腎臓発生 / CBWD1

Outline of Final Research Achievements

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage renal disease in children. Part of CAKUT is caused by a single gene abnormality, and about 40 kinds of causative genes have been revealed. However, there were not many cases where the causative gene became clear.Therefore, it was thought that a novel causative gene might exist.
This study was conducted to identify a novel causative gene of CAKUT. First, we found that CBWD1 gene was partially deleted by whole genome analysis of DNA of patients with CAKUT. Next, we created Cbwd1 knockout mice and revealed that these mice exhibit CAKUT.
From the above, it was proved that CBWD1 is a novel causative gene of CAKUT.

Free Research Field

小児腎臓病学

Academic Significance and Societal Importance of the Research Achievements

前述の通りCAKUTは小児末期腎不全の最大の原因である。そのためその病因を明らかにすることは大変有意義である。
また近年、さまざまな臓器の再生医療研究が活性化し、中には臨床応用されているものもある。腎臓においても、透析や移植に代わる治療法の開発のため、再生医療研究が行われている。臓器再生医療の実現のためには、まず発生をより深く理解することが必要であり、本研究の成果－腎臓発生に関わる遺伝子の発見－は、腎臓発生の理解を深めるもので、再生医療研究実現の一助となると考えられる。