| RRC ID |
78725
|
| Author |
Mu A, Hira A, Mori M, Okamoto Y, Takata M.
|
| Title |
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.
|
| Journal |
DNA Repair (Amst)
|
| Abstract |
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.
|
| Volume |
130
|
| Pages |
103546
|
| Published |
2023-10-1
|
| DOI |
10.1016/j.dnarep.2023.103546
|
| PII |
S1568-7864(23)00100-3
|
| PMID |
37572579
|
| MeSH |
Aldehyde Dehydrogenase, Mitochondrial / genetics
Aldehyde Dehydrogenase, Mitochondrial / metabolism
Aldehydes / metabolism
Child
DNA Damage
DNA Repair
Fanconi Anemia* / genetics
Fanconi Anemia* / metabolism
Hematopoiesis
Humans
|
| Resource |
| Human and Animal Cells |
201B7(HPS0063) |
