Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer

Biochem Biophys Res Commun. 1996 Jan 26;218(3):766-71. doi: 10.1006/bbrc.1996.0136.

Abstract

Globoid cell leukodystrophy (GCL) or Krabbe disease is an autosomal recessive inherited disease caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible for the degradation of galactocerebroside, a major component of myelin. An animal model homologue of GCL is the twitcher mouse. In the present work, using novel recombinant retroviruses harboring the SL3-3 LTR, we have been able to stably correct the galactocerebrosidase deficiency in twitcher mouse TM-2 cells and in primary human fibroblasts from a patient with globoid cell leukodystrophy. These results show the possibility of retroviral-mediated gene therapy for the treatment of GCL.

MeSH terms

  • Animals
  • Cell Line
  • Chlorocebus aethiops
  • Galactosylceramidase / deficiency*
  • Gene Transfer Techniques
  • Genetic Therapy
  • Genetic Vectors
  • Humans
  • Leukodystrophy, Globoid Cell / enzymology*
  • Leukodystrophy, Globoid Cell / genetics
  • Leukodystrophy, Globoid Cell / therapy
  • Mice

Substances

  • Galactosylceramidase