Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice

Mol Ther. 2012 Jul;20(7):1454-61. doi: 10.1038/mt.2012.64. Epub 2012 Apr 3.

Abstract

Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition. We created a fully congenic nonobese diabetic (NOD)/severe combined immunodeficiency (SCID)/Fabry murine line to facilitate the in vivo assessment of human cell-directed therapies for Fabry disease. This pure line was generated after 11 generations of backcrosses and was found, as expected, to have a reduced immune compartment and background α-gal A activity. Next, we transplanted normal human CD34(+) cells transduced with a control (lentiviral vector-enhanced green fluorescent protein (LV-eGFP)) or a therapeutic bicistronic LV (LV-α-gal A/internal ribosome entry site (IRES)/hCD25). While both experimental groups showed similar engraftment levels, only the therapeutic group displayed a significant increase in plasma α-gal A activity. Gb(3) quantification at 12 weeks revealed metabolic correction in the spleen, lung, and liver for both groups. Importantly, only in the therapeutically-transduced cohort was a significant Gb(3) reduction found in the heart and kidney, key target organs for the amelioration of Fabry disease in humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens, CD34 / analysis
  • Cell Line
  • Fabry Disease / genetics*
  • Fabry Disease / metabolism
  • Fabry Disease / therapy*
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Green Fluorescent Proteins / genetics
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells
  • Humans
  • Kidney / metabolism
  • Lentivirus / genetics
  • Liver / metabolism
  • Lung / metabolism
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Myocardium / metabolism
  • Spleen / metabolism
  • Transduction, Genetic
  • Trihexosylceramides / metabolism
  • alpha-Galactosidase / blood
  • alpha-Galactosidase / genetics*

Substances

  • Antigens, CD34
  • Trihexosylceramides
  • enhanced green fluorescent protein
  • Green Fluorescent Proteins
  • globotriaosylceramide
  • alpha-Galactosidase