Department of Medicine, University of Washington, Seattle, WA 98195-7710, USA.
Exp Hematol. 2012 Apr;40(4):290-4. doi: 10.1016/j.exphem.2011.12.003. Epub 2011 Dec 20.
Diamond-Blackfan anemia is a congenital hypoproliferative macrocytic anemia and 5q- syndrome myelodysplastic syndrome is an acquired hypoproliferative macrocytic anemia. Their common erythroid phenotype reflects a shared pathophysiology-haploinsufficiency of one of many ribosomal proteins and somatic deletion of one allele of the ribosomal protein S14 gene, respectively. Although these abnormalities lead to defective ribosome biogenesis, why ribosomal protein hemizygosity results in anemia is not certain. Here, we characterize the hematopoietic phenotype of mice lacking one allele of the ribosomal protein S6 gene. The mice have an erythroid phenotype similar to both Diamond-Blackfan anemia and the 5q- syndrome and lenalidomide therapy improves their anemia.
先天性红细胞生成不良性贫血是一种先天性增生不良性巨红细胞性贫血，5q- 综合征骨髓增生异常性贫血是一种获得性增生不良性巨红细胞性贫血。它们共同的红系表型反映了一个共同的病理生理学机制——核糖体蛋白之一的单倍体不足，以及核糖体蛋白 S14 基因的一个等位基因的体细胞缺失。尽管这些异常导致核糖体生物发生缺陷，但为什么核糖体蛋白半合子导致贫血尚不确定。在这里，我们描述了核糖体蛋白 S6 基因缺失一个等位基因的小鼠的造血表型。这些小鼠表现出与 Diamond-Blackfan 贫血和 5q- 综合征相似的红细胞表型，来那度胺治疗可改善其贫血。
