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Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer

Mol Ther. 2003 May;7(5 Pt 1):613-22. doi: 10.1016/s1525-0016(03)00091-1.

Abstract

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Since some patients with DBA develop a reduction in thrombocytes and granulocytes with age, we asked whether multipotent hematopoietic progenitors from DBA patients had normal proliferative capacity in liquid expansion cultures. CD34(+) cells derived from DBA patients showed deficient proliferation in liquid culture containing IL-3, IL-6, and SCF. Single CD34(+) CD38(-) cells from DBA patients exhibited deficient proliferation recruitment in a limiting dilution assay containing IL-3, IL-6, SCF, Tpo, FL, and G-CSF or containing IL-3, IL-6, and SCF. Our findings suggest that the underlying hematopoietic defect in DBA may not be limited to the erythroid lineage. Since a fraction of DBA patients have a deficiency in ribosomal protein S19 (RPS19), we constructed lentiviral vectors containing the RPS19 gene for overexpression in hematopoietic progenitors from RPS19-deficient DBA patients. Enforced expression of the RPS19 transgene improved the proliferation of CD34(+) cells from DBA patients with RPS19 mutation. Similarly, enforced expression of RPS19 improved erythroid development of RPS19-deficient hematopoietic progenitors as determined by colony assays and erythroid differentiation cultures. These findings suggest that gene therapy for RPS19-deficient DBA is feasible.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Diamond-Blackfan / metabolism
  • Anemia, Diamond-Blackfan / therapy*
  • Antigens, CD / analysis
  • Bone Marrow / pathology
  • Case-Control Studies
  • Cell Division / physiology
  • Cell Line
  • Colony-Forming Units Assay
  • Cytokines / metabolism
  • Gene Expression Regulation / physiology*
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors
  • Hematopoietic Stem Cells / metabolism*
  • Hematopoietic Stem Cells / pathology
  • Humans
  • Lentivirus / genetics
  • Ribosomal Proteins / deficiency
  • Ribosomal Proteins / genetics*
  • Transfection

Substances

  • Antigens, CD
  • Cytokines
  • Ribosomal Proteins
  • ribosomal protein S19