Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease

Mol Ther. 2013 Oct;21(10):1938-49. doi: 10.1038/mt.2013.141. Epub 2013 Jun 7.

Abstract

Mucopolysaccharidosis type IIIA (MPSIIIA) is a lysosomal storage disorder caused by mutations in N-sulfoglucosamine sulfohydrolase (SGSH), resulting in heparan sulfate (HS) accumulation and progressive neurodegeneration. There are no treatments. We previously demonstrated improved neuropathology in MPSIIIA mice using lentiviral vectors (LVs) overexpressing SGSH in wild-type (WT) hematopoietic stem cell (HSC) transplants (HSCTs), achieved via donor monocyte/microglial engraftment in the brain. However, neurological disease was not corrected using LVs in autologous MPSIIIA HSCTs. To improve brain expression via monocyte/microglial specificity, LVs expressing enhanced green fluorescent protein (eGFP) under ubiquitous phosphoglycerate kinase (PGK) or myeloid-specific promoters were compared in transplanted HSCs. LV-CD11b-GFP gave significantly higher monocyte/B-cell eGFP expression than LV-PGK-GFP or LV-CD18-GFP after 6 months. Subsequently, autologous MPSIIIA HSCs were transduced with either LV-PGK-coSGSH or LV-CD11b-coSGSH vectors expressing codon-optimized SGSH and transplanted into MPSIIIA mice. Eight months after HSCT, LV-PGK-coSGSH vectors produced bone marrow SGSH (576% normal activity) similar to LV-CD11b-coSGSH (473%), but LV-CD11b-coSGSH had significantly higher brain expression (11 versus 7%), demonstrating improved brain specificity. LV-CD11b-coSGSH normalized MPSIIIA behavior, brain HS, GM2 ganglioside, and neuroinflammation to WT levels, whereas LV-PGK-coSGSH partly corrected neuropathology but not behavior. We demonstrate compelling evidence of neurological disease correction using autologous myeloid driven lentiviral-HSC gene therapy in MPSIIIA mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / enzymology
  • CD11b Antigen / genetics
  • Cell Line
  • Disease Models, Animal
  • Female
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells / physiology*
  • Heparitin Sulfate / metabolism
  • Humans
  • Hydrolases / genetics*
  • Hydrolases / metabolism*
  • Lentivirus / genetics
  • Leukocytes / metabolism
  • Lysosomes / physiology
  • Mice
  • Mice, Inbred C57BL
  • Microglia / enzymology
  • Microglia / physiology*
  • Mucopolysaccharidosis III / metabolism
  • Mucopolysaccharidosis III / pathology
  • Mucopolysaccharidosis III / therapy*
  • Myeloid Cells / enzymology
  • Myeloid Cells / physiology
  • Organ Specificity
  • Promoter Regions, Genetic

Substances

  • CD11b Antigen
  • ITGAM protein, human
  • enhanced green fluorescent protein
  • Green Fluorescent Proteins
  • Heparitin Sulfate
  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase