Analysis of tissue-specific distribution and function of ALDH isoforms in Fanconi anemia pathway

2015 Fiscal Year Final Research Report

• Project/Area Number: 26550026
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Risk sciences of radiation and chemicals
• Research Institution: Kyoto University
• Principal Investigator: Takata Minoru 京都大学, 放射線生物研究センター, 教授 (30281728)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: アルデヒド / ALDH / ファンコニ貧血

Outline of Final Research Achievements

We have previously reported that Fanconi anemia (FA) patients with variant alleles of ALDH2 gene encoding an acetoaldehyde-catalyzing enzyme display accelerated progression of bone marrow failure, indicating that endogenous aldehydes damage DNA in hematopoietic stem cells and FA pathway is counteracting them. In this study, we have determined tissue specific mRNA expression of 19 ALDH isozymes in CD34+ progenitor cells, liver cells, and placenta cells. We also identified a set of Japanese patients who displayed bone marrow failure and had biallelic mutations in one of the alydehyde-catalyzing enzyme genes. This is probably a new syndrome that is caused by accumulated DNA damage due to lower catabolism of endogenous aldehydes.

Free Research Field

分子生物学、分子放射線生物学