title: The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype.
abstract: Studies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase-2 (ALDH2) 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 DNA damage. We studied the ALDH2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH2 allele was not essential for fetal development of ALDH2-deficient patients, and none of the post-natal clinical parameters were clearly affected by the maternal ALDH2 genotype in these patients.
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan. miharu@is.icc.u-tokai.ac.jp.
authors.forename: Miharu
authors.initials: M
authors.lastname: Yabe
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.affiliation: Department of Paediatrics, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Morimoto
authors.affiliation: Department of Paediatrics, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Fukumura
authors.affiliation: Department of Paediatrics, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Ohtsubo
authors.affiliation: Department of Paediatrics, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Koike
authors.affiliation: Department of Pathology and Tumour Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Pathology and Tumour Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Department of Paediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
authors.affiliation: Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.affiliation: Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.affiliation: Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Division of Molecular Medicine, Aichi Cancer Centre Research Institute, Nagoya, Japan.
authors.forename: Keitaro
authors.initials: K
authors.lastname: Matsuo
authors.affiliation: Laboratory of DNA Damage Signalling, Department of Late Effects Studies, Radiation Biology Centre, Kyoto University, Kyoto, Japan.
authors.forename: Asuka
authors.initials: A
authors.lastname: Hira
authors.affiliation: Laboratory of DNA Damage Signalling, Department of Late Effects Studies, Radiation Biology Centre, Kyoto University, Kyoto, Japan. mtakata@house.rbc.kyoto-u.ac.jp.
authors.forename: Minoru
authors.initials: M
authors.lastname: Takata
mesh_terms: D000071396:Aldehyde Dehydrogenase, Mitochondrial / Q000235:genetics*; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D043171:Chromosomal Instability; D004249:DNA Damage; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: D000071396:Aldehyde Dehydrogenase, Mitochondrial
keywords: ALDH2; Fanconi anaemia; bone marrow failure; haematopoietic stem cell transplantation