RRC ID |
78725
|
著者 |
Mu A, Hira A, Mori M, Okamoto Y, Takata M.
|
タイトル |
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.
|
ジャーナル |
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.
|
巻・号 |
130
|
ページ |
103546
|
公開日 |
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
|
リソース情報 |
ヒト・動物細胞 |
201B7(HPS0063) |