PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features

PLoS One. 2020 Jul 31;15(7):e0236597. doi: 10.1371/journal.pone.0236597. eCollection 2020.


Introduction: McArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and genetic aspects of the disease as a set have not been studied previously.

Methods: We investigated genetic variation in PYGM considering the number of PTCs (premature termination codon) per sample and compared mRNA expression in skeletal muscle samples from 15 patients with McArdle disease and 16 controls to PTCs number and different aspects of the disease.

Results: The main variant found was c.148C>T (PTC-premature termination codon). Patients with two PTCs showed 42% mRNA expression compared to the control group. Most cases showed an inversely proportional relation among PTCs and mRNA expression. Association between mRNA expression and other aspects of the disease showed no statistically significant difference (p> 0.05).

Discussion: mRNA expression is not useful as a predictor factor for the prognosis and severity of the disease. Different mechanisms as post-transcriptional events, epigenetics factors or protein function may be involved.

MeSH terms

  • Adult
  • Codon, Nonsense / genetics
  • Cross-Sectional Studies
  • Demography*
  • Female
  • Gene Expression Regulation, Enzymologic*
  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / epidemiology
  • Glycogen Storage Disease Type V / genetics*
  • Glycogen Storage Disease Type V / pathology
  • Humans
  • Male
  • Middle Aged
  • RNA, Messenger / genetics
  • Young Adult


  • Codon, Nonsense
  • RNA, Messenger
  • Glycogen Phosphorylase, Muscle Form

Grants and funding

The authors received no specific funding for this work.