|Title:||Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients|
Takata, Minoru https://orcid.org/0000-0002-4926-3675 (unconfirmed)
|Author's alias:||髙田, 穣|
|Publisher:||American Society of Hematology|
|Abstract:||Fanconi anemia (FA) is a severe hereditary disorder with defective DNA damage response and repair. It is characterized by phenotypes including progressive bone marrow failure (BMF), developmental abnormalities, and increased occurrence of leukemia and cancer. Recent studies in mice have suggested that the FA proteins might counteract aldehyde-induced genotoxicity in hematopoietic stem cells. Nearly half of the Japanese population carries a dominant negative allele (rs671) of the aldehyde-catalyzing enzyme ALDH2 (acetaldehyde dehydrogenase 2), providing an opportunity to test this hypothesis in humans. We examined 64 Japanese FA patients, and found that the ALDH2 variant is associated with accelerated progression of BMF, while birth weight or the number of physical abnormalities was not affected. Moreover, malformations at some specific anatomic locations were observed more frequently in ALDH2-deficient patients. Our current data indicate that the level of ALDH2 activity impacts pathogenesis in FA, suggesting the possibility of a novel therapeutic approach.|
|Description:||「アルデヒド分解酵素遺伝子」ALDH2が解き明かす難病の謎. 京都大学プレスリリース. 2013-09-13|
|Rights:||© 2013 American Society of Hematology|
This is not the published version. Please cite only the published version.
|Appears in Collections:||Journal Articles|
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