Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
Semin Hematol. 2011 Apr;48(2):81-8. doi: 10.1053/j.seminhematol.2011.02.002.
Diamond Blackfan anemia (DBA) is a rare congenital anemia, with more than 50% of patients having mutations in a ribosomal protein. Evidence suggests that both translation and p53 activation play roles in mediating the hematopoietic phenotype. The reason for erythroid specificity of DBA is unclear. Several zebrafish models of DBA have been generated, and these models have already provided key information about disease pathogenesis. The zebrafish model is particularly amenable for studying blood development, allows for advanced imaging techniques, can be manipulated genetically, and is useful for high-throughput screening. By applying zebrafish approaches to the existing DBA models, we will be able to better understand the role of the ribosomal protein mutation in DBA and develop better treatments for this disease.
先天性 Diamond Blackfan 贫血(DBA)是一种罕见的遗传性贫血,超过 50%的患者存在核糖体蛋白突变。有证据表明,翻译和 p53 激活均在介导血液表型中发挥作用。DBA 红系特异性的原因尚不清楚。已经建立了几种 DBA 的斑马鱼模型,这些模型已经提供了关于疾病发病机制的关键信息。斑马鱼模型特别适合研究血液发育,允许使用高级成像技术,可进行遗传操作,并且非常适合高通量筛选。通过将斑马鱼方法应用于现有的 DBA 模型,我们将能够更好地了解核糖体蛋白突变在 DBA 中的作用,并为这种疾病开发更好的治疗方法。