期刊
INTERNATIONAL JOURNAL OF HEMATOLOGY
卷 93, 期 2, 页码 144-149出版社
SPRINGER JAPAN KK
DOI: 10.1007/s12185-011-0776-0
关键词
Myelodysplastic syndrome; Diamond-Blackfan anemia; p53
类别
资金
- NHLBI NIH HHS [R01 HL082945] Funding Source: Medline
Over the past decade, genetic lesions that cause ribosome dysfunction have been identified in both congenital and acquired human disorders. These discoveries have established a new category of disorders, known as ribosomopathies, in which the primary pathophysiology is related to impaired ribosome function. The protoptypical disorders are Diamond-Blackfan anemia, a congenital bone marrow failure syndrome, and the 5q- syndrome, a subtype of myelodysplastic syndrome. In both of these disorders, impaired ribosome function causes a severe macrocytic anemia. In this review, we will discuss the evidence that defects in ribosomal biogenesis cause the hematologic phenotype of Diamond-Blackfan anemia and the 5q- syndrome. We will also explore the potential mechanisms by which a ribosomal defect, which would be expected to have widespread consequences, may lead to specific defects in erythropoiesis.
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