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.
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http://dx.doi.org/10.1111/bjh.14243 | DOI Listing |
Alcohol Clin Exp Res (Hoboken)
November 2024
Center for Birth Cohort Studies, University of Yamanashi, Chuo, Japan.
Mitochondrion
May 2024
Department of Integrative and Functional Biology, CSIR - Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India; AcSIR - Academy of Scientific and Innovative Research, Ghaziabad, Uttar Pradesh 201002, India. Electronic address:
Alteration of immune response and synovium microvasculature in Rheumatoid arthritis (RA) progression has been suggested to be associated with mitochondrial functioning. Mitochondria, with maternally inherited DNA, exhibit differential response to the female hormone estrogen. Various epidemiological evidence has also shown the prominence of RA in the female population, depicting the role of estrogen in modulating the pathogenesis of RA.
View Article and Find Full Text PDFFront Med (Lausanne)
June 2022
Division of Visceral Surgery, Department of Surgery, Geneva University Hospitals, Geneva, Switzerland.
Pediatr Res
April 2022
Department of Woman and Child's Care and Adolescence Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Background: An earlier meta-analysis of genome-wide association studies in Asian populations detected five novel body mass index-associated single-nucleotide polymorphisms (SNPs), including potassium voltage-gated channel subfamily Q member 1 (KCNQ1) (rs2237892), ALDH2/MYL2 (rs671, rs12229654), ITIH4 (rs2535633), and NT5C2 (rs11191580). Whether these SNPs take effect in early life, for example, affect infant rapid weight gain (RWG), is unclear.
Methods: We obtained genomic DNA from 460 term infants with normal birth weight.
J Hepatol
September 2020
Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan, China, 430072; Frontier Science Center for Immunology and Metabolism, Wuhan University, Wuhan, China, 430072. Electronic address:
Background & Aims: Obesity is an independent risk factor for malignancies, including hepatocellular carcinoma (HCC). However, it remains unknown whether maternal obesity affects the incidence of HCC in offspring. Thus, we aimed to investigate this association and its underlying mechanisms.
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