Expression of recombinant transmembrane CD59 in paroxysmal nocturnal hemoglobinuria B cells confers resistance to human complement

Blood. 1994 Oct 15;84(8):2604-11.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic disorder characterized by complement-mediated hemolytic anemia, pancytopenia, and venous thrombosis. These clinical manifestations arise from an underlying molecular defect of bone marrow stem cells. Specifically, somatic mutations in the phosphatidylinositol glycan class A gene result in the ability of blood cells to anchor complement-regulatory proteins (CD59 and DAF) to the cell surface via glycosyl phosphatidylinositol (GPI). In an attempt to circumvent the functional defect in PNH cells, a recombinant transmembrane form of CD59 (CD59-TM) was analyzed for the ability to regulate complement activity. Balb/3T3 stable transfectants expressing similar levels of either CD59-TM or native CD59 (CD59-GPI) were equally protected against human complement-mediated membrane damage. Treatment of these cells with phosphatidylinositol-specific phospholipase C failed to release CD59-TM from the cell surface. Retroviral transduction of GPI-anchoring deficient mouse L cells with CD59-TM resulted in surface expression of the protein and rendered these cells resistant to human complement-mediated membrane damage. Conversely, L cells transduced with CD59-GPI failed to express this protein on the cell surface. A GPI-anchoring deficient complement-sensitive B-cell line derived from a PNH patient was successfully transduced with CD59-TM, resulting in surface expression of the protein. The PNH B cells expressing CD59-TM were protected against classical complement-mediated membrane damage by human serum. Taken together, these data establish that a functional recombinant transmembrane form of CD59 can be expressed on the surface of GPI-anchoring deficient PNH cells and suggest that retroviral gene therapy with this molecule could provide a treatment for PNH patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3T3 Cells
  • Animals
  • Antigens, CD / genetics*
  • B-Lymphocytes / immunology*
  • Base Sequence
  • CD59 Antigens
  • Cell Line
  • Cell Line, Transformed
  • Complement System Proteins / immunology*
  • Gene Expression*
  • Gene Transfer Techniques
  • Glycosylphosphatidylinositols / metabolism
  • Hemoglobinuria, Paroxysmal / immunology*
  • Herpesvirus 4, Human
  • Humans
  • L Cells / metabolism
  • Membrane Glycoproteins / genetics*
  • Mice
  • Mice, Inbred BALB C
  • Molecular Sequence Data
  • Recombinant Proteins

Substances

  • Antigens, CD
  • CD59 Antigens
  • Glycosylphosphatidylinositols
  • Membrane Glycoproteins
  • Recombinant Proteins
  • Complement System Proteins