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

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

Alzira A S Carvalho  1 , Denise M Christofolini  2   3 , Matheus M Perez  4 , Beatriz C A Alves  4 , Itatiana Rodart  2 , Francisco W S Figueiredo  5 , Karine C Turke  6 , David Feder  7 , Marcondes C F Junior  8 , Ana M Nucci  8 , Fernando L A Fonseca  4
Affiliations

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

Alzira A S Carvalho et al. PLoS One. .

Abstract

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.

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Conflict of interest statement

NO: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. PYGM differential expression among groups.
Legend: CTL: Control group; McArdle: All patients; PTC0: Patients with unknown number premature termination codon; PTC1: Patients with one premature termination codon; PCT2: Patients with two premature termination codon.
See this image and copyright information in PMC

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