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Gene therapy for lysosomal disorders

N Naffakh1, D Bohl, A Salvetti

  • 1Laboratoire Rétrovirus et Transfert Génétique, Institut Pasteur, Paris, France.

Nouvelle Revue Francaise D'Hematologie
|January 1, 1994
PubMed
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Genetically modified cells were implanted to produce beta-glucuronidase in mice with mucopolysaccharidosis type VII. This gene therapy approach successfully reduced lysosomal storage lesions in multiple organs.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lysosomal storage diseases, such as mucopolysaccharidosis type VII (MPS VII), result from genetic defects in lysosomal hydrolases.
  • Enzyme replacement therapy is a proposed treatment for these severe genetic disorders.

Purpose of the Study:

  • To investigate the efficacy of autologous implants of genetically modified cells for continuous in vivo production of beta-glucuronidase in MPS VII mice.
  • To assess the potential of gene therapy for treating MPS VII using fibroblasts, bone marrow cells, and myoblasts.

Main Methods:

  • Primary skin fibroblasts, bone marrow cells, or myoblasts from MPS VII mice were infected with a retroviral vector containing human beta-glucuronidase cDNA.
  • Genetically modified fibroblasts were embedded in collagen lattices and reimplanted into the peritoneal cavity of recipient MPS VII mice.

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  • Genetically modified bone marrow cells and myoblasts were transplanted into sublethally irradiated MPS VII mice and injured muscles, respectively.

    • Main Results:

    • Implanted fibroblasts formed vascularized neo-organs that produced and accumulated beta-glucuronidase in vivo, leading to complete resolution of lysosomal storage lesions in the liver and spleen.
    • Gene transfer into bone marrow cells resulted in a drastic reduction of lysosomal storage lesions in the liver and spleen, even with less than 5% modified cells.
    • Transplanted myoblasts contributed to muscle fiber regeneration, secreting enzyme that was taken up by the liver for at least one month.

    Conclusions:

    • Autologous implants of genetically modified cells offer a promising strategy for continuous in vivo lysosomal enzyme delivery and treatment of MPS VII.
    • This gene therapy approach has been successfully scaled up for long-term enzyme delivery in dogs.
    • The study demonstrates the potential of genetically modified cells for treating lysosomal storage diseases and tissue regeneration.