Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients

Author:

Hira Asuka1,Yabe Hiromasa2,Yoshida Kenichi3,Okuno Yusuke3,Shiraishi Yuichi4,Chiba Kenichi4,Tanaka Hiroko5,Miyano Satoru45,Nakamura Jun6,Kojima Seiji7,Ogawa Seishi38,Matsuo Keitaro9,Takata Minoru1,Yabe Miharu2

Affiliation:

1. Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto, Japan;

2. Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan;

3. Cancer Genomics Project, Graduate School of Medicine,

4. Laboratory of DNA Information Analysis, and

5. Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan;

6. Department of Environmental Sciences and Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC;

7. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan;

8. Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; and

9. Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan

Abstract

Key Points We found the defective ALDH2 variant is associated with accelerated progression of BMF in Japanese FA patients. The data support the view that aldehydes are an important source of genotoxicity in the human hematopoietic system.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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