Intravital imaging of muscle damage and response to therapy in a model of Pompe disease

Meena, Naresh K.; Ng, Yeap; Randazzo, Davide; Weigert, Roberto; Puertollano, Rosa; Raben, Nina

doi:10.1002/ctm2.1561

Cited by 3 publications

(1 citation statement)

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“…Importantly, in the context of Pompe disease, a naturally chronic setting-noninvasive imaging of the striated tongue muscle was shown to be equally informative. Although less omnipresent, autophagic buildup-a prominent feature in untreated tongue muscle of GFP-LC3:KO-was not seen in gene therapy-treated GFP-LC3:KO animals [129]. Thus, the reporter model of Pompe disease offers a window into the disease progression and enables a highly efficient evaluation of response to therapies by imaging clinically relevant tongue lesion.…”

Section: Relieving the Burden Of Autophagy As A Gauge Of Therapeutic ...mentioning

confidence: 99%

Failure of Autophagy in Pompe Disease

Do,

Meena,

Raben

2024

Biomolecules

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Autophagy is an evolutionarily conserved lysosome-dependent degradation of cytoplasmic constituents. The system operates as a critical cellular pro-survival mechanism in response to nutrient deprivation and a variety of stress conditions. On top of that, autophagy is involved in maintaining cellular homeostasis through selective elimination of worn-out or damaged proteins and organelles. The autophagic pathway is largely responsible for the delivery of cytosolic glycogen to the lysosome where it is degraded to glucose via acid α-glucosidase. Although the physiological role of lysosomal glycogenolysis is not fully understood, its significance is highlighted by the manifestations of Pompe disease, which is caused by a deficiency of this lysosomal enzyme. Pompe disease is a severe lysosomal glycogen storage disorder that affects skeletal and cardiac muscles most. In this review, we discuss the basics of autophagy and describe its involvement in the pathogenesis of muscle damage in Pompe disease. Finally, we outline how autophagic pathology in the diseased muscles can be used as a tool to fast track the efficacy of therapeutic interventions.

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Section: Relieving the Burden Of Autophagy As A Gauge Of Therapeutic ...mentioning

confidence: 99%