Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.

ABSTRACT: Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subsequent exercise intolerance. The pathobiology of GSDV is still not fully understood, especially with regard to some features such as persistent muscle damage (i.e., even without prior exercise). We aimed at identifying potential muscle protein biomarkers of GSDV by analyzing the muscle proteome and the molecular networks associated with muscle dysfunction in these patients. Muscle biopsies from eight patients and eight healthy controls showing none of the features of McArdle disease, such as frequent contractures and persistent muscle damage, w

SUBMITTER: Garcia-Consuegra I 

PROVIDER: S-EPMC9100117 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature