The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal <i>ALDH2</i> genotype
-
- Miharu Yabe
- Department of Cell Transplantation and Regenerative Medicine Tokai University School of Medicine Isehara Japan
-
- Hiromasa Yabe
- Department of Cell Transplantation and Regenerative Medicine Tokai University School of Medicine Isehara Japan
-
- Tsuyoshi Morimoto
- Department of Paediatrics Tokai University School of Medicine Isehara Japan
-
- Akiko Fukumura
- Department of Paediatrics Tokai University School of Medicine Isehara Japan
-
- Keisuke Ohtsubo
- Department of Paediatrics Tokai University School of Medicine Isehara Japan
-
- Takashi Koike
- Department of Paediatrics Tokai University School of Medicine Isehara Japan
-
- Kenichi Yoshida
- Department of Pathology and Tumour Biology Graduate School of Medicine Kyoto University Kyoto Japan
-
- Seishi Ogawa
- Department of Pathology and Tumour Biology Graduate School of Medicine Kyoto University Kyoto Japan
-
- Etsuro Ito
- Department of Paediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
-
- Yusuke Okuno
- Department of Paediatrics Nagoya University Graduate School of Medicine Nagoya Japan
-
- Hideki Muramatsu
- Department of Paediatrics Nagoya University Graduate School of Medicine Nagoya Japan
-
- Seiji Kojima
- Department of Paediatrics Nagoya University Graduate School of Medicine Nagoya Japan
-
- Keitaro Matsuo
- Division of Molecular Medicine Aichi Cancer Centre Research Institute Nagoya Japan
-
- Asuka Hira
- Laboratory of DNA Damage Signalling Department of Late Effects Studies Radiation Biology Centre Kyoto University Kyoto Japan
-
- Minoru Takata
- Laboratory of DNA Damage Signalling Department of Late Effects Studies Radiation Biology Centre Kyoto University Kyoto Japan
この論文をさがす
説明
<jats:title>Summary</jats:title><jats:p>Studies using Fanconi anaemia (<jats:styled-content style="fixed-case">FA</jats:styled-content>) mutant mouse models suggested that the combination of a defective <jats:styled-content style="fixed-case">FA</jats:styled-content> pathway and aldehyde dehydrogenase‐2 (<jats:styled-content style="fixed-case">ALDH</jats:styled-content>2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from <jats:styled-content style="fixed-case">DNA</jats:styled-content> damage. We studied the <jats:italic><jats:styled-content style="fixed-case">ALDH</jats:styled-content>2</jats:italic> genotypes of 35 Japanese <jats:styled-content style="fixed-case">FA</jats:styled-content> patients and their mothers. We found that a normal maternal <jats:italic><jats:styled-content style="fixed-case">ALDH</jats:styled-content>2</jats:italic> allele was not essential for fetal development of <jats:italic><jats:styled-content style="fixed-case">ALDH</jats:styled-content>2</jats:italic>‐deficient patients, and none of the post‐natal clinical parameters were clearly affected by the maternal <jats:italic><jats:styled-content style="fixed-case">ALDH</jats:styled-content>2</jats:italic> genotype in these patients.</jats:p>
収録刊行物
-
- British Journal of Haematology
-
British Journal of Haematology 175 (3), 457-461, 2016-07-05
Wiley