Document Detail


AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2.
MedLine Citation:
PMID:  15996520     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Darshong Lin; Corinne R Fantz; Beth Levy; Mohammad A Rafi; Carole Vogler; David A Wenger; Mark S Sands
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular therapy : the journal of the American Society of Gene Therapy     Volume:  12     ISSN:  1525-0016     ISO Abbreviation:  Mol. Ther.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-08-15     Completed Date:  2005-11-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  100890581     Medline TA:  Mol Ther     Country:  United States    
Other Details:
Languages:  eng     Pagination:  422-30     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Washington University School of Medicine, Box 8007, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Behavior, Animal
Body Weight
Brain / metabolism,  pathology
Central Nervous System Diseases / enzymology*,  genetics
DNA, Complementary / metabolism
Dependovirus / genetics*
Disease Models, Animal
Galactosylceramidase / genetics*
Gene Therapy / instrumentation*,  methods
Gene Transfer Techniques
Genetic Vectors / genetics*
Genotype
Green Fluorescent Proteins / metabolism
Homozygote
Leukodystrophy, Globoid Cell / therapy*
Mice
Mutation
Neurons / metabolism
Phenotype
Polymerase Chain Reaction
Time Factors
Grant Support
ID/Acronym/Agency:
DK 38795/DK/NIDDK NIH HHS; DK 57586/DK/NIDDK NIH HHS; MH 9453/MH/NIMH NIH HHS; MH 9471/MH/NIMH NIH HHS; NS 43205/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Complementary; 147336-22-9/Green Fluorescent Proteins; EC 3.2.1.46/Galactosylceramidase

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