期刊
BLOOD
卷 120, 期 11, 页码 2225-2228出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2012-05-431437
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资金
- Hemato-Linne grant (Swedish Research Council Linnaeus)
- Swedish Cancer Society
- Swedish Children's Cancer Society
- Swedish Research Council
- Royal Swedish Academy of Sciences
- Tobias Foundation
- EU
- Diamond-Blackfan Anemia Foundation
Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19% improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity, and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for Rps19-deficient hematopoiesis and was associated with down-regulation of p53 activity. Our study supports the rationale for clinical trials of L-leucine as a therapeutic agent for DBA. (Blood. 2012;120(11):2225-2228)
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