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Int J Hematol. 2011 Feb;93(2):144-149. doi: 10.1007/s12185-011-0776-0. Epub 2011 Feb 1.

Ribosome defects in disorders of erythropoiesis.

Narla A1,2,3, Hurst SN2, Ebert BL4,5,6.

Author information

1
Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA.
2
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Karp Research Building, CHRB 05.211, 1 Blackfan Circle, Boston, MA, 02115, USA.
3
Department of Medicine, Children's Hospital Boston, Boston, MA, 02115, USA.
4
Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA. bebert@partners.org.
5
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Karp Research Building, CHRB 05.211, 1 Blackfan Circle, Boston, MA, 02115, USA. bebert@partners.org.
6
Harvard Stem Cell Institute, Cambridge, MA, 02138, USA. bebert@partners.org.

Abstract

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.

PMID:
21279816
PMCID:
PMC3689295
DOI:
10.1007/s12185-011-0776-0
[Indexed for MEDLINE]
Free PMC Article

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