Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome-Reference-Cited by-同舟云学术

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Published:2020-12-18 Issue:51 Volume:6 Page:
ISSN:2375-2548
Container-title:Science Advances
language:en
Short-container-title:Sci. Adv.

Author:

Oka Yasuyoshi¹²^ORCID,Hamada Motoharu³^ORCID,Nakazawa Yuka¹²,Muramatsu Hideki³,Okuno Yusuke³^ORCID,Higasa Koichiro⁴⁵,Shimada Mayuko¹²,Takeshima Honoka¹²⁶,Hanada Katsuhiro⁷,Hirano Taichi⁸^ORCID,Kawakita Toshiro⁸,Sakaguchi Hirotoshi⁹^ORCID,Ichimura Takuya¹⁰^ORCID,Ozono Shuichi¹¹^ORCID,Yuge Kotaro¹¹^ORCID,Watanabe Yoriko¹¹^ORCID,Kotani Yuko¹²¹³,Yamane Mutsumi¹⁴,Kasugai Yumiko¹⁵^ORCID,Tanaka Miyako¹⁶¹⁷^ORCID,Suganami Takayoshi¹⁶¹⁷^ORCID,Nakada Shinichiro¹⁸¹⁹^ORCID,Mitsutake Norisato²⁰^ORCID,Hara Yuichiro¹²,Kato Kohji¹²^ORCID,Mizuno Seiji²¹^ORCID,Miyake Noriko²²,Kawai Yosuke²³²⁴^ORCID,Tokunaga Katsushi²³^ORCID,Nagasaki Masao²⁴²⁵^ORCID,Kito Seiji¹⁴,Isoyama Keiichi²⁶,Onodera Masafumi²⁷,Kaneko Hideo²⁸,Matsumoto Naomichi²²,Matsuda Fumihiko⁵,Matsuo Keitaro¹⁵²⁹^ORCID,Takahashi Yoshiyuki³,Mashimo Tomoji¹²¹³³⁰^ORCID,Kojima Seiji³,Ogi Tomoo¹²^ORCID

Affiliation:

1. Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.

2. Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

3. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

4. Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, Osaka, Japan.

5. Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

6. School of Medicine, Nagoya University, Nagoya, Japan.

7. Clinical Engineering Research Center, Faculty of Medicine, Oita University, Yufu, Japan.

8. Department of Hematology, National Hospital Organization, Kumamoto Medical Center, Kumamoto, Japan.

9. Department of Hematology and Oncology, Children Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.

10. Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Japan.

11. Department of Pediatrics and Child Health, School of Medicine, Kurume University, Kurume, Japan.

12. Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.

13. Genome Editing Research and Development (R&D) Center, Graduate School of Medicine, Osaka University, Osaka, Japan.

14. Center for Animal Research and Education, Nagoya University, Nagoya, Japan.

15. Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.

16. Department of Molecular Medicine and Metabolism, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.

17. Department of Immunometabolism, Nagoya University Graduate School of Medicine, Nagoya, Japan.

18. Department of Bioregulation and Cellular Response, Graduate School of Medicine, Osaka University, Osaka, Japan.

19. Institute for Advanced Co-Creation Studies, Osaka University, Osaka, Japan.

20. Department of Radiation Medical Sciences, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.

21. Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.

22. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

23. Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

24. Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.

25. Human Biosciences Unit for the Top Global Course Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, Kyoto, Japan.

26. Department of Pediatrics, Showa University Fujigaoka Hospital, Yokohama, Japan.

27. Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.

28. Department of Clinical Research, National Hospital Organization, Nagara Medical Center, Gifu, Japan.

29. Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

30. Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.

Abstract

Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome.

Funder

Japan Agency for Medical Research and Development

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference64 articles.

1. Mammals divert endogenous genotoxic formaldehyde into one-carbon metabolism

2. Mechanisms of human histone and nucleic acid demethylases

3. ALDEHYDE DEHYDROGENASE DEFICIENCY AS CAUSE OF FACIAL FLUSHING REACTION TO ALCOHOL IN JAPANESE

4. The Alcohol Flushing Response: An Unrecognized Risk Factor for Esophageal Cancer from Alcohol Consumption

5. Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transcription reprogramming and endogenous DNA damage;DNA Repair;2024-10

2. ALDH2/eIF3E Interaction Modulates Protein Translation Critical for Cardiomyocyte Ferroptosis in Acute Myocardial Ischemia Injury;2024-08-20

3. ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes;Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis;2024-07

4. Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging;Nucleic Acids Research;2024-06-19

5. Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood;European Journal of Medical Genetics;2024-06