Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA.

ABSTRACT: Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia. Enzyme replacement therapy and hematopoietic stem cell transplantation are current treatment options but have limited impact on bone lesions. In this study, we investigated adeno-associated virus (AAV)8 or AAV9 vectors with liver-specific thyroxine-binding globulin or liver-specific promoter-a modification of hAAT (LSPX), liver-muscle tandem (LMTP), liver-bone tandem (LBTP), and ubiquitous cytomegalovirus early enhancer/chicken β-actin (CAG) promoters in MPS IVA mice to compare therapeutic efficacy on biochemical markers and bone pathology. All v

SUBMITTER: Khan SA 

PROVIDER: S-EPMC11994321 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature