Development and analysis of retroviral vectors expressing human factor VIII as a potential gene therapy for hemophilia A

Hum Gene Ther. 1995 Nov;6(11):1363-77. doi: 10.1089/hum.1995.6.11-1363.

Abstract

To develop a potential gene therapy strategy for the treatment of hemophilia A, we constructed several retroviral vectors expressing a B-domain-deleted factor VIII (FVIII) cDNA. We confirmed previous reports that when the FVIII cDNA is inserted into a retroviral vector, the vector mRNA is decreased resulting in significantly (100- to 1,000-fold) lower vector titers. In an attempt to overcome this inhibition we pursued two independent strategies. First, site-directed mutagenesis was employed to change the structure of a putative 1.2-kb FVIII RNA inhibitory sequence (INS). Second, the FVIII gene was transcribed from a retroviral vector containing a 5' intron. Results demonstrated that the intron increased FVIII expression up to 20-fold and viral titer up to 40-fold but conservative mutagenesis of the putative FVIII INS region failed to yield a significant increase in FVIII expression or titer. Using the improved FVIII splicing vector, we transduced a variety of cell types and were able to demonstrate relatively high FVIII expression (10-60 ng of FVIII/10(6) cells/24 hr). These results underscore the usefulness of these transduced cell types for potential in vivo delivery of FVIII.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3T3 Cells
  • Animals
  • Base Sequence
  • Cell Line
  • Cloning, Molecular
  • DNA, Recombinant
  • Factor VIII / genetics*
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors*
  • Hemophilia A / therapy*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Mutagenesis
  • Nucleic Acid Conformation
  • RNA / chemistry
  • Retroviridae / genetics*
  • Tumor Cells, Cultured

Substances

  • DNA, Recombinant
  • RNA
  • Factor VIII