Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector

Young Bin Hong, Eun Young Kim, Han Wook Yoo, Sung Chul Jung

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Gaucher disease, one of the common lysosomal storage disorders, is caused by a deficiency of glucocerebrosidase (GC). We investigated gene transfer using recombinant adeno-associated viral (rAAV) vectors containing human GC cDNA driven by the human elongation factor 1-α promoter. This rAAV vector mediated efficient expression of human GC in human Gaucher fibroblasts. GC activities were increased from 2.8 to 3.4 times in normal fibroblast and from 1.9 to 4.6 times in Gaucher fibroblasts, and these increases in GC activity were maintained over 20 weeks. Intravenous administration of vectors via the hepatic portal vein and tail vein of wild-type mice resulted in efficient transduction into the tissues. GC activities of the liver, spleen, and lung in transduced mice were increased significantly up to two fold at 6 weeks after transduction. Significantly increased GC activities persisted over 20 weeks. Therefore, rAAV vector-mediated gene transfer may provide a therapeutic approach for the treatment of Gaucher disease.

Original languageEnglish
Pages (from-to)536-543
Number of pages8
JournalJournal of Human Genetics
Volume49
Issue number10
DOIs
StatePublished - Oct 2004

Keywords

  • AAV vector
  • Adeno-associated virus
  • Gaucher disease
  • Gene therapy
  • Glucocerebrosidase

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