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- W3034741849 abstract "Pompe disease, a deficiency of glycogen-degrading lysosomal acid alpha-glucosidase (GAA), is a disabling multisystemic illness that invariably affects skeletal muscle in all patients. The patients still carry a heavy burden of the disease, despite the currently available enzyme replacement therapy. We have previously shown that progressive entrapment of glycogen in the lysosome in muscle sets in motion a whole series of extra-lysosomal events including defective autophagy and disruption of a variety of signaling pathways. Here, we report that metabolic abnormalities and energy deficit also contribute to the complexity of the pathogenic cascade. A decrease in the metabolites of the glycolytic pathway and a shift to lipids as the energy source are observed in the diseased muscle. We now demonstrate in a pre-clinical study that a recently developed replacement enzyme (recombinant human GAA; AT-GAA; Amicus Therapeutics) with much improved lysosome-targeting properties reversed or significantly improved all aspects of the disease pathogenesis, an outcome not observed with the current standard of care. The therapy was initiated in GAA-deficient mice with fully developed muscle pathology but without obvious clinical symptoms; this point deserves consideration." @default.
- W3034741849 created "2020-06-19" @default.
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- W3034741849 creator A5061131591 @default.
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- W3034741849 date "2020-09-01" @default.
- W3034741849 modified "2023-10-18" @default.
- W3034741849 title "Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease" @default.
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- W3034741849 doi "https://doi.org/10.1016/j.omtm.2020.05.026" @default.
- W3034741849 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7334420" @default.
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- W3034741849 hasPublicationYear "2020" @default.
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