Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage

DNA Repair (Amst). 2023 Aug 1;130:103546. doi: 10.1016/j.dnarep.2023.103546. Online ahead of print.ABSTRACTWe 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.PMID:37572579 | DOI:10.1016/j.dnarep.2023.103546

Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Anfeng Mu Asuka Hira Minako Mori Yusuke Okamoto Minoru Takata Source Type: research