Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia

Blood. 2002 Oct 15;100(8):2724-31. doi: 10.1182/blood.V100.8.2724.

Abstract

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Forty percent of the patients are blood transfusion-dependent. Recent reports show that the ribosomal protein S19 (RPS19) gene is mutated in 25% of all patients with DBA. We constructed oncoretroviral vectors containing the RPS19 gene to develop gene therapy for RPS19-deficient DBA. These vectors were used to introduce the RPS19 gene into CD34(+) bone marrow (BM) cells from 4 patients with DBA with RPS19 gene mutations. Overexpression of the RPS19 transgene increased the number of erythroid colonies by almost 3-fold. High expression levels of the RPS19 transgene improved erythroid colony-forming ability substantially whereas low expression levels had no effect. Overexpression of RPS19 had no detrimental effect on granulocyte-macrophage colony formation. Therefore, these findings suggest that gene therapy for RPS19-deficient patients with DBA using viral vectors that express the RPS19 gene is feasible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia, Diamond-Blackfan / genetics*
  • Anemia, Diamond-Blackfan / therapy*
  • Antigens, CD / analysis
  • Antigens, CD34 / analysis
  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / physiology*
  • Bone Marrow Transplantation / methods*
  • Cell Line
  • Child
  • Colony-Forming Units Assay
  • Female
  • Gene Transfer Techniques
  • Genetic Vectors
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / pathology
  • Hematopoietic Stem Cells / physiology*
  • Humans
  • Male
  • Reverse Transcriptase Polymerase Chain Reaction
  • Ribosomal Proteins / deficiency*
  • Ribosomal Proteins / genetics*
  • Transfection

Substances

  • Antigens, CD
  • Antigens, CD34
  • Ribosomal Proteins
  • ribosomal protein S19