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• W1968713059 abstract "Mucopolysaccharidosis type IIIA (MPSIIIA) is a rare lysosomal storage disorder caused by mutations in the sulfamidase gene. Accumulation of glycosaminoglycan (GAG) inside the lysosomes is associated with severe neurodegeneration as well as peripheral organ pathological changes leading to death of affected individuals during adolescence. There is no cure for MPSIIIA. Due to the limitation of the blood–brain barrier, enzyme replacement therapy and gene therapy strategies attempted thus far have not achieved whole-body correction of the disease. After the systemic administration of an adeno-associated virus 9 (AAV9) vector encoding for sulfamidase under the control of a ubiquitous promoter, we were able to obtain widespread expression of the therapeutic transgene in brain and in peripheral organs, and sulfamidase activity in serum of both male and female MPSIIIA mice. This was accompanied by the normalization of GAG storage levels in most peripheral organs. In brain, decrease in GAG tissue content following AAV9 gene transfer of sulfamidase was associated with the resolution of neuroinflammation. Finally, correction of disease phenotype resulted in a remarkable prolongation of survival of both male and female AAV-treated MPSIIIA mice. This proof-of-concept study will be relevant to the future development of therapies for MPSIIIA. In this proof-of-concept study, Ruzo and colleagues demonstrate that systemic delivery of an AAV9 vector encoding the sulfamidase transgene leads to widespread gene delivery to the brain and peripheral organs. This approach resulted in correction of GAC accumulation and was associated with a significant prolongation of life in both male and female mucopolysaccharidosis type IIIA (MPSIIIA) mice." @default.
• W1968713059 created "2016-06-24" @default.
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• W1968713059 date "2012-12-01" @default.
• W1968713059 modified "2023-10-18" @default.
• W1968713059 title "Correction of Pathological Accumulation of Glycosaminoglycans in Central Nervous System and Peripheral Tissues of MPSIIIA Mice Through Systemic AAV9 Gene Transfer" @default.
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• W1968713059 doi "https://doi.org/10.1089/hum.2012.029" @default.
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