Journal article

Authors list: Rohm, Marlena; Volke, Leon; Schlaffke, Lara; Rehmann, Robert; Suedkamp, Nicolina; Roos, Andreas; Schaenzer, Anne; Hentschel, Andreas; Vorgerd, Matthias

Publication year: 2023

Journal: Cells

Volume number: 12

Issue number: 12

eISSN: 2073-4409

Open access status: Gold

DOI Link: https://doi.org/10.3390/cells12121602

Publisher: MDPI

Abstract: 
Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent from the GAA residual enzyme activity. This study aimed to investigate early proteomic changes in a mouse model of Pompe disease and identify potential therapeutic pathways using proteomic analysis of skeletal muscles from pre-symptomatic Pompe mice. For this purpose, quadriceps samples of Gaa(6neo/6neo) mutant (Pompe) and wildtype mice, at the age of six weeks, were studied with three biological replicates for each group. The data were validated with skeletal muscle morphology, immunofluorescence studies and western blot analysis. Proteomic profiling identified 538 significantly upregulated and 16 significantly downregulated proteins in quadriceps muscles derived from Pompe animals compared to wildtype mice. The majority of significantly upregulated proteins were involved in metabolism, translation, folding, degrading and vesicular transport, with some having crucial roles in the etiopathology of other neurological or neuromuscular diseases. This study highlights the importance of the early diagnosis and treatment of Pompe disease and suggests potential add-on therapeutic strategies targeting protein dysregulations.

Harvard Citation style: Rohm, M., Volke, L., Schlaffke, L., Rehmann, R., Suedkamp, N., Roos, A., et al. (2023) Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model, Cells, 12(12), Article 1602. https://doi.org/10.3390/cells12121602

APA Citation style: Rohm, M., Volke, L., Schlaffke, L., Rehmann, R., Suedkamp, N., Roos, A., Schaenzer, A., Hentschel, A., & Vorgerd, M. (2023). Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model. Cells. 12(12), Article 1602. https://doi.org/10.3390/cells12121602