Efficient retrovirus-mediated PIG-A gene transfer and stable restoration of GPI-anchored protein expression in cells with the PNH phenotype

Blood. 2001 May 15;97(10):3004-10. doi: 10.1182/blood.v97.10.3004.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disorder characterized by complement-mediated hemolysis due to deficiencies of glycosylphosphatidylinositol-anchored proteins (GPI-APs) in subpopulations of blood cells. Acquired mutations in the X-linked phosphatidylinositol glycan-class A (PIG-A) gene appear to be the characteristic and pathogenetic cause of PNH. To develop a gene therapy approach for PNH, a retroviral vector construct, termed MPIN, was made containing the PIG-A complementary DNA along with an internal ribosome entry site and the nerve growth factor receptor (NGFR) as a selectable marker. MPIN transduction led to efficient and stable PIG-A and NGFR gene expression in a PIG-A-deficient B-cell line (JY5), a PIG-A-deficient K562 cell line, an Epstein-Barr virus-transformed B-cell line (TK-14(-)) established from a patient with PNH, as well as peripheral blood (PB) mononuclear cells from a patient with PNH. PIG-A expression in these cell lines stably restored GPI-AP expression. MPIN was transduced into bone marrow mononuclear cells from a patient with PNH, and myeloid/erythroid colonies and erythroid cells were derived. These transduced erythroid cells restored surface expression of GPI-APs and resistance to hemolysis. These results indicate that MPIN is capable of efficient and stable functional restoration of GPI-APs in a variety of PIG-A-deficient hematopoietic cell types. Furthermore, MPIN also transduced into PB CD34(+) cells from a normal donor, indicating that MPIN can transduce primitive human progenitors. These findings set the stage for determining whether MPIN can restore PIG-A function in multipotential stem cells, thereby providing a potential new therapeutic option in PNH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3T3 Cells
  • Animals
  • B-Lymphocytes / metabolism
  • Bone Marrow Cells / metabolism
  • Cell Line
  • Cell Line, Transformed
  • Gene Expression
  • Genetic Vectors
  • Glycosylphosphatidylinositols / genetics*
  • Hematopoietic Stem Cells / metabolism
  • Hemoglobinuria, Paroxysmal / blood
  • Hemoglobinuria, Paroxysmal / genetics*
  • Hemoglobinuria, Paroxysmal / metabolism
  • Hemolysis
  • Herpesvirus 4, Human
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mice
  • Mutation
  • Nerve Growth Factor / analysis
  • Nerve Growth Factor / genetics
  • Phenotype
  • Retroviridae / genetics*
  • Transfection*

Substances

  • Glycosylphosphatidylinositols
  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein
  • Nerve Growth Factor