Key result
Intraperitoneal administration of AAV9-FKRP in a mutant mouse model restored functional glycosylation of α-dystroglycan and significantly improved dystrophic pathology and muscle function.
Why the study?
Does AAV9-FKRP gene therapy restore functional glycosylation of α-dystroglycan and improve muscle function in a FKRP mutant mouse model?
Does AAV9-FKRP gene therapy restore functional glycosylation of α-dystroglycan and improve muscle function in a FKRP mutant mouse model?
AAV9-mediated FKRP gene therapy successfully restores α-dystroglycan glycosylation and improves muscle function in a mouse model of FKRP-related muscular dystrophy, providing proof-of-concept for future treatments.
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Hypothesis-generating for AAV9-FKRP gene therapy in FKRP-related dystrophy; leaves open translation to human trials.
Xu et al. (2013) studied FKRP-related muscular dystrophies. AAV9-FKRP was evaluated on FKRP expression, functional glycosylation of α-DG, dystrophic pathology, serum creatine kinase levels, and muscle function. Intraperitoneal administration of AAV9-FKRP in a mutant mouse model restored functional glycosylation of α-dystroglycan and significantly improved dystrophic pathology and muscle function.
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