PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
<h4>Introduction</h4>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...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2020-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0236597 |
| _version_ | 1818575654204997632 |
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| author | Alzira A S Carvalho Denise M Christofolini Matheus M Perez Beatriz C A Alves Itatiana Rodart Francisco W S Figueiredo Karine C Turke David Feder Marcondes C F Junior Ana M Nucci Fernando L A Fonseca |
| author_facet | Alzira A S Carvalho Denise M Christofolini Matheus M Perez Beatriz C A Alves Itatiana Rodart Francisco W S Figueiredo Karine C Turke David Feder Marcondes C F Junior Ana M Nucci Fernando L A Fonseca |
| author_sort | Alzira A S Carvalho |
| collection | DOAJ |
| description | <h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Discussion</h4>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. |
| first_indexed | 2024-12-15T00:43:49Z |
| format | Article |
| id | doaj.art-d2eaaf581be74b1383bbd54100a805ad |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-15T00:43:49Z |
| publishDate | 2020-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-d2eaaf581be74b1383bbd54100a805ad2022-12-21T22:41:35ZengPublic Library of Science (PLoS)PLoS ONE1932-62032020-01-01157e023659710.1371/journal.pone.0236597PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.Alzira A S CarvalhoDenise M ChristofoliniMatheus M PerezBeatriz C A AlvesItatiana RodartFrancisco W S FigueiredoKarine C TurkeDavid FederMarcondes C F JuniorAna M NucciFernando L A Fonseca<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Discussion</h4>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.https://doi.org/10.1371/journal.pone.0236597 |
| spellingShingle | Alzira A S Carvalho Denise M Christofolini Matheus M Perez Beatriz C A Alves Itatiana Rodart Francisco W S Figueiredo Karine C Turke David Feder Marcondes C F Junior Ana M Nucci Fernando L A Fonseca PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. PLoS ONE |
| title | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. |
| title_full | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. |
| title_fullStr | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. |
| title_full_unstemmed | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. |
| title_short | PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. |
| title_sort | pygm mrna expression in mcardle disease demographic clinical morphological and genetic features |
| url | https://doi.org/10.1371/journal.pone.0236597 |
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