High-level beta-globin expression and preferred intragenic integration after lentiviral transduction of human cord blood stem cells

J Clin Invest. 2004 Oct;114(7):953-62. doi: 10.1172/JCI21838.

Abstract

Transplantation of genetically corrected autologous hematopoietic stem cells is an attractive approach for the cure of sickle-cell disease and beta-thalassemia. Here, we infected human cord blood cells with a self-inactivating lentiviral vector encoding an anti-sickling betaA-T87Q-globin transgene and analyzed the transduced progeny produced over a 6-month period after transplantation of the infected cells directly into sublethally irradiated NOD/LtSz-scid/scid mice. Approximately half of the human erythroid and myeloid progenitors regenerated in the mice containing the transgene, and erythroid cells derived in vitro from these in vivo-regenerated cells produced high levels of betaA-T87Q-globin protein. Linker-mediated PCR analysis identified multiple transgene-positive clones in all mice analyzed with 2.1 +/- 0.1 integrated proviral copies per cell. Genomic sequencing of vector-containing fragments showed that 86% of the proviral inserts had occurred within genes, including several genes implicated in human leukemia. These findings indicate effective transduction of very primitive human cord blood cells with a candidate therapeutic lentiviral vector resulting in the long-term and robust, erythroid-specific production of therapeutically relevant levels of beta-globin protein. However, the frequency of proviral integration within genes that regulate hematopoiesis points to a need for additional safety modifications.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Lineage
  • Cell Transplantation
  • Cells, Cultured
  • Chromosomes, Human
  • Fetal Blood / cytology*
  • Gene Transfer Techniques
  • Genetic Therapy / methods
  • Genetic Vectors / genetics
  • Genetic Vectors / metabolism*
  • Globins / genetics
  • Globins / metabolism*
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / physiology*
  • Humans
  • Lentivirus / genetics
  • Lentivirus / metabolism*
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Transduction, Genetic*
  • Transgenes

Substances

  • Globins