Pros and cons of different ways to address dysfunctional autophagy in Pompe disease

Annals of Translational Medicine
Jeong-A LimNina Raben

Abstract

Autophagy is a major intracellular self-digestion process that brings cytoplasmic materials to the lysosome for degradation. Defective autophagy has been linked to a broad range of human disorders, including cancer, diabetes, neurodegeneration, autoimmunity, cardiovascular diseases, and myopathies. In Pompe disease, a severe neuromuscular disorder, disturbances in autophagic process manifest themselves as progressive accumulation of undegraded cellular debris in the diseased muscle cells. A growing body of evidence has connected this defect to the decline in muscle function and muscle resistance to the currently available treatment-enzyme replacement therapy (ERT). Both induction and inhibition of autophagy have been tested in pre-clinical studies in a mouse model of the disease. Here, we discuss strengths and weaknesses of different approaches to address autophagic dysfunction in the context of Pompe disease.

Citations

Sep 24, 2019·Neuropathology and Applied Neurobiology·M KulessaA Schänzer
Oct 13, 2020·Journal of Cellular Physiology·Jiafeng LiKailiang Zhou
Jul 17, 2020·Molecular Therapy. Methods & Clinical Development·Naresh Kumar MeenaRosa Puertollano
Aug 31, 2021·Journal of the American Heart Association·Ronny AlcalaiChristine E Seidman

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