Show simple item record

dc.contributor.supervisor Triggs-Raine, Barbara (Biochemistry and Medical Genetics) en_US
dc.contributor.author Altaleb, Naderah
dc.date.accessioned 2015-03-02T21:00:46Z
dc.date.available 2015-03-02T21:00:46Z
dc.date.issued 2014-12-17 en_US
dc.identifier.citation Walia, J. S.; Altaleb, N.; Bello, A.; Kruck, C.; LaFave, M. C.; Varshney, G. K.; Burgess, S. M.; Chowdhury, B.; Hurlbut, D.; Hemming, R.; Kobinger, G. P.; Triggs-Raine, B. Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates. Mol Ther 2015. en_US
dc.identifier.uri http://hdl.handle.net/1993/30287
dc.description.abstract The infantile GM2 gangliosidoses are severe neurodegenerative disorders, caused by a defect in the β-hexosaminidase system. They are characterized by lysosomal accumulation of the substrate, GM2 ganglioside, which results in severe neuronal damage and death in the early years of life. Sandhoff mice deficient in both major hexosaminidase isozymes, Hex A and Hex B, mimic the disease severity in the human condition including the motor deterioration, histopathological findings, and premature death. To investigate the utility of systemic adeno-associated virus 9 (AAV9)-based gene delivery in treating GM2 gangliosidoses, we evaluated the therapeutic outcome of a single intravenous injection of recombinant AAV9 encoding the complementing Hexb gene in a Sandhoff mouse model. We showed prolonged survival, preserved motor function, and reduced GM2 ganglioside accumulation as well as inflammation when systemic AAV9 therapy was administered to 1-2 days old mice. However, the formation of liver or lung tumours accompanied the positive therapeutic effect. en_US
dc.publisher Nature Publishing Group en_US
dc.subject Gene therapy en_US
dc.subject GM2 gangliosidoses en_US
dc.subject AAV9 en_US
dc.title Assessing the potential of rAAV9 systemic gene therapy for GM2 gangliosidoses using a Sandhoff mouse model en_US
dc.degree.discipline Biochemistry and Medical Genetics en_US
dc.contributor.examiningcommittee Simard, Louise (Biochemistry and Medical Genetics) Uzonna, Jude (Immunology) en_US
dc.degree.level Master of Science (M.Sc.) en_US
dc.description.note May 2015 en_US


Files in this item

This item appears in the following Collection(s)

Show simple item record

View Statistics