Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan; Multilayer Network Research Unit, Research Coordination Alliance, Kyoto University, Kyoto, Japan.
Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan.
DNA Repair (Amst). 2023 Oct;130:103546. doi: 10.1016/j.dnarep.2023.103546. Epub 2023 Aug 1.
We have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health.
我们已经发现一组日本儿童患有由醛降解酶 ADH5 和 ALDH2 联合缺陷引起的发育不全性贫血。他们的临床特征与遗传性 DNA 修复障碍——范可尼贫血重叠。我们发现的这种疾病称为醛降解缺陷综合征（ADDS），这一发现强化了内源性生成的醛具有遗传毒性作用的观点；因此，代谢和 DNA 修复的联合作用是维持正常造血和健康所必需的。
