Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
Copyright policy )Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that is typically fatal by 1-2years of age to a more slowly progressive course that causes significant morbidity and early mortality in children and adults. Recombinant human GAA (rhGAA) improves clinical outcomes with variable results. Adjunct therapy that increases the effectiveness of rhGAA may benefit some Pompe patients. Co-administration of the mTORC1 inhibitor rapamycin with rhGAA in a GAA knockout mouse reduced muscle glycogen content more than rhGAA or rapamycin alone. These results suggest mTORC1 inhibition may benefit GSDs that involve glycogen accumulation in muscle.
- Genzyme United States
Sirolimus, Aging, Dose-Response Relationship, Drug, Glycogen Storage Disease Type II, Myocardium, TOR Serine-Threonine Kinases, Proteins, alpha-Glucosidases, Mechanistic Target of Rapamycin Complex 1, Recombinant Proteins, Mice, Glycogen Synthase, Multiprotein Complexes, Animals, Humans, Enzyme Replacement Therapy, Phosphorylation, Muscle, Skeletal, Glycogen, Transcription Factors
Sirolimus, Aging, Dose-Response Relationship, Drug, Glycogen Storage Disease Type II, Myocardium, TOR Serine-Threonine Kinases, Proteins, alpha-Glucosidases, Mechanistic Target of Rapamycin Complex 1, Recombinant Proteins, Mice, Glycogen Synthase, Multiprotein Complexes, Animals, Humans, Enzyme Replacement Therapy, Phosphorylation, Muscle, Skeletal, Glycogen, Transcription Factors
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