Gene therapy of chronic granulomatous disease

Bone Marrow Transplant. 2000 May:25 Suppl 2:S99-104. doi: 10.1038/sj.bmt.1702365.

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder which results from absence or malfunction of the respiratory burst oxidase normally expressed in neutrophils and other phagocytic leukocytes. Two-thirds of the patients are males hemizygous for mutations in the X-linked gene coding for gp91-phox. As a therapeutic approach towards the X-linked form of CGD bicistronic retroviral vectors containing the gp91-phox gene and a selectable marker gene were constructed. The ability of these vectors to restore NADPH oxidase activity was tested in a human myeloid leukemic cell line that is defective in superoxide production, as well as in primary CD34+ cells obtained from X-CGD patients. Under optimal conditions 80% of the CD34+ cells derived from bone marrow of one X-CGD patient were transduced. The level of superoxide production, in phagocytes derived from transduced cells was 68.9% of normal levels. Considering that low levels of superoxide generating activity are sufficient for normal host defense, the present experiments provide the basis for the development of a gene replacement therapy for the X-linked form of CGD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens, CD34 / metabolism
  • Bone Marrow Cells / immunology
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / virology
  • Bone Marrow Transplantation
  • Cell Line
  • DNA, Complementary / genetics
  • Gene Expression
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / metabolism
  • Granulomatous Disease, Chronic / therapy*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics
  • Mice
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • Respiratory Burst
  • Retroviridae / genetics
  • Superoxides / metabolism
  • Transduction, Genetic
  • X Chromosome / genetics

Substances

  • Antigens, CD34
  • DNA, Complementary
  • Membrane Glycoproteins
  • Superoxides
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases