ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan
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Alcohol aldehyde dehydrogenase 2 (ALDH2) is one of several enzymes that catalyzes the dehydrogenization of aldehydes. ALDH2 deficiency resulting from a Glu504Lys substitution (rs671, c.1510G>A) is prevalent in the Japanese population. ALDH2 is strongly suppressed in the presence of the dominant-negative A allele (Lys504).
Recently, Hira et al. showed that the A allele causes accelerated progression of bone marrow failure and malformations in Japanese Fanconi anemia (FA) patients .
However, the pathological significance of ALDH2 polymorphisms on other inherited bone marrow failure syndromes (IBMFS) remains unknown.
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterized by red blood cell aplasia, generally presenting in infancy, sometimes with various malformations [2, 3]. More than 50 % of DBA patients possess heterozygous mutations in 1 of 15 genes encoding ribosomal proteins (RP), and rare X-linked DBA families have shown to have GATA1...
KeywordsAplastic Anemia Fanconi Anemia Ribosomal Protein Gene GATA1 Mutation Physical Anomaly
This work was supported by the Health and Labor Sciences Research Grants for Intractable Diseases from the Ministry of Health, Labor and Welfare of Japan (H26-NANCHITOU(NAN)-IPPAN-029), and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED) (15ek0109133h0001).