International Journal of Hematology

, Volume 93, Issue 2, pp 144–149

Ribosome defects in disorders of erythropoiesis

  • Anupama Narla
  • Slater N. Hurst
  • Benjamin L. Ebert
Progress in Hematology Seven wonders of erythropoiesis

DOI: 10.1007/s12185-011-0776-0

Cite this article as:
Narla, A., Hurst, S.N. & Ebert, B.L. Int J Hematol (2011) 93: 144. doi:10.1007/s12185-011-0776-0

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.

Keywords

Myelodysplastic syndromeDiamond–Blackfan anemiap53

Copyright information

© The Japanese Society of Hematology 2011

Authors and Affiliations

  • Anupama Narla
    • 1
    • 2
    • 3
  • Slater N. Hurst
    • 2
  • Benjamin L. Ebert
    • 1
    • 2
    • 4
  1. 1.Dana-Farber Cancer InstituteHarvard Medical SchoolBostonUSA
  2. 2.Department of Medicine, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA
  3. 3.Department of MedicineChildren’s Hospital BostonBostonUSA
  4. 4.Harvard Stem Cell InstituteCambridgeUSA