AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2

Mol Ther. 2005 Sep;12(3):422-30. doi: 10.1016/j.ymthe.2005.04.019.

Abstract

Globoid-cell leukodystrophy (GLD) is an autosomal recessive lysosomal storage disorder caused by mutations in the galactosylceramidase (GALC) gene. Infantile GLD has a lethal course with severe cerebral demyelination that progresses to death by 2 years of age. In the current study twitcher mice, an authentic murine model of infantile GLD, were given intracranial injections of either recombinant adeno-associated virus serotype 2 encoding the murine Galc cDNA (AAV2-GALC) or the same genome pseudotyped with AAV5 capsid proteins (AAV2/5-GALC) on day 3 of age. The group injected intracranially with AAV2/5-GALC had approximately 25-fold greater than normal Galc levels in the brain, while AAV2-GALC-injected animals had 28% normal levels. The average life expectancy of twitcher mice ( approximately 38 days) was significantly (P < 0.0001) increased to 48 and 52 days for the AAV2-GALC- and AAV2/5-GALC-treated groups, respectively. The AAV2/5-GALC group performed significantly better in a battery of behavioral tests compared to untreated, AAV2-GFP-treated, or AAV2-treated twitcher animals. This longitudinal study demonstrated that AAV2/5-GALC-mediated gene therapy resulted in higher levels of Galc expression and slowed the neurologic deterioration more completely than AAV2-GALC in the murine model of globoid-cell leukodystrophy. However, the clinical improvements, as assessed by behavioral tests and life span, were only modest.

Publication types

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

MeSH terms

  • Animals
  • Behavior, Animal
  • Body Weight
  • Brain / metabolism
  • Brain / pathology
  • Central Nervous System Diseases / enzymology*
  • Central Nervous System Diseases / genetics
  • DNA, Complementary / metabolism
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Galactosylceramidase / genetics*
  • Gene Transfer Techniques
  • Genetic Therapy / instrumentation*
  • Genetic Therapy / methods
  • Genetic Vectors / genetics*
  • Genotype
  • Green Fluorescent Proteins / metabolism
  • Homozygote
  • Leukodystrophy, Globoid Cell / therapy*
  • Mice
  • Mutation
  • Neurons / metabolism
  • Phenotype
  • Polymerase Chain Reaction
  • Time Factors

Substances

  • DNA, Complementary
  • Green Fluorescent Proteins
  • Galactosylceramidase