TAILIEUCHUNG - Báo cáo khoa học: Adeno-associated virus gene transfer in Morquio A disease – effect of promoters and sulfatase-modifying factor 1

Mucopolysaccharidosis (MPS) IVA is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sul-fate sulfatase (GALNS), which leads to the accumulation of keratan sulfate and chondroitin 6-sulfate, mainly in bone. | ễFEBS Journal Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1 Carlos J. Almeciga-Diaz1 Adriana M. Montano2 Shunji Tomatsu2 and Luis A. Barrera1 1 Institute for the Study of Inborn Errors of Metabolism Pontificia Universidad Javeriana Bogota . Colombia 2 Department of Pediatrics Schoolof Medicine Saint Louis University St Louis MO USA Keywords adeno-associated virus-derived vector cytomegalovirus immediate early enhancer promoter mucopolysaccharidosis IVA N-acetylgalatosamine-6-sulfate sulfatase sulfatase-modifying factor 1 SUMF1 Correspondence L. A. Barrera Institute for the Study of Inborn Errors of Metabolism Pontificia Universidad Javeriana Bogota . Colombia Fax 57 1 3208320 Ext 4099 Tel 57 1 3208320 Ext 4125 E-mail abarrera@ S. Tomatsu Department of Pediatrics Schoolof Medicine Saint Louis University Saint Louis MO USA Fax 1 314 9779105 Tel 1 314 9779292 E-mail tomatsus@ Received 20 May 2010 revised 1 July 2010 accepted 8 July 2010 Mucopolysaccharidosis MPS IVA is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sul-fate sulfatase GALNS which leads to the accumulation of keratan sulfate and chondroitin 6-sulfate mainly in bone. To explore the possibility of gene therapy for Morquio A disease we transduced the GALNS gene into HEK293 cells human MPS IVA fibroblasts and murine MPS IVA chondrocytes by using adeno-associated virus AAV -based vectors which carry human GALNS cDNA. The effects of the promoter and the cotransduction with the sulfatase-modifying factor 1 gene SUMF1 on GALNS activity levels was evaluated. Downregulation of the cytomegalovirus CMV immediate early enhancer promoter was not observed for 10 days post-transduction. The eukaryotic promoters induced equal or higher levels of GALNS activity than those induced by the CMV promoter in HEK293 cells. Transduction of human MPS IVA fibroblasts induced GALNS .

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