Effect of neonatal administration of a retroviral vector expressing alpha-L-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice

Mol Genet Metab. 2007 Feb;90(2):181-92. doi: 10.1016/j.ymgme.2006.08.001. Epub 2006 Sep 18.

Abstract

Mucopolysaccharidosis I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in accumulation of glycosaminoglycans in many cells. Gene therapy could program cells to secrete IDUA modified with mannose 6-phosphate (M6P), and enzyme could be taken up by other cells via the M6P receptor. We previously reported that newborn MPS I mice that were injected intravenously with 10(9) (high-dose) or 10(8) (low-dose) transducing units/kg of a retroviral vector (RV) expressing canine IDUA achieved stable levels of IDUA activity in serum and had reduced disease in heart, eye, ear, and bone in a dose-dependent fashion. However, the dose required for improvement in manifestations of disease in other organs was not reported. High-dose and low-dose RV mice with an average serum IDUA activity of 1037+/-90 U/ml (471-fold normal) and 43+/-12 U/ml (20-fold normal), respectively, had complete correction of biochemical and pathological evidence of disease in the liver, spleen, kidney, and small intestines. Although mice that received high-dose RV had complete correction of lysosomal storage in thymus, ovary, lung, and testis, correction in these organs was only partial for those that received low-dose RV. Storage in brain was almost completely corrected with high-dose RV, but was not improved with low-dose RV. The correction of disease in brain may be due to diffusion of enzyme from blood. We conclude that high-dose RV prevents biochemical and pathological manifestations of disease in all organs in MPS I mice including brain.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Brain / metabolism
  • Brain / pathology*
  • Cerebral Cortex / pathology
  • Dose-Response Relationship, Drug
  • Female
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage*
  • Glycosaminoglycans / metabolism
  • Iduronidase / administration & dosage*
  • Iduronidase / genetics
  • Iduronidase / metabolism
  • Iduronidase / pharmacokinetics
  • Liver / metabolism
  • Liver / pathology
  • Lysosomes / metabolism
  • Male
  • Mice
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / therapy*
  • Ovary / metabolism
  • Ovary / pathology
  • Retroviridae / genetics
  • Testis / metabolism
  • Testis / pathology
  • Thymus Gland / metabolism
  • Thymus Gland / pathology
  • Tissue Distribution
  • beta-N-Acetylhexosaminidases / metabolism

Substances

  • Glycosaminoglycans
  • beta-N-Acetylhexosaminidases
  • Iduronidase