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

Autor: Francisco Winter dos Santos Figueiredo, Fernando Luiz Affonso Fonseca, David Feder, Matheus Moreira Perez, Marcondes Cavalcante França Junior, Alzira Alves de Siqueira Carvalho, Karine C Turke, Ana M Nucci, Itatiana Rodart, Beatriz da Costa Aguiar Alves, Denise Maria Christofolini
Rok vydání: 2020
Předmět:
0301 basic medicine
Male
Glycogens
Biopsy
Glycobiology
Disease
Biochemistry
0302 clinical medicine
Genotype-phenotype distinction
Animal Cells
Medicine and Health Sciences
Musculoskeletal System
Regulation of gene expression
Multidisciplinary
Muscles
Middle Aged
Stop codon
Codon
Nonsense
Medicine
Glycogen Phosphorylase
Muscle Form
Female
Cellular Types
Anatomy
Research Article
Adult
medicine.medical_specialty
Science
Slow-Twitch Muscle Fibers
Surgical and Invasive Medical Procedures
Biology
Muscle Fibers
Gene Expression Regulation
Enzymologic
03 medical and health sciences
Young Adult
Diagnostic Medicine
Internal medicine
Genetic variation
medicine
Genetics
Humans
Epigenetics
RNA
Messenger
Gene
Demography
Clinical Genetics
Genetic heterogeneity
Fast-Twitch Muscle Fibers
Biology and Life Sciences
Cell Biology
Skeletal Muscle Fibers
030104 developmental biology
Endocrinology
Cross-Sectional Studies
Genetics of Disease
Glycogen Storage Disease Type V
030217 neurology & neurosurgery
Zdroj: PLoS ONE
PLoS ONE, Vol 15, Iss 7, p e0236597 (2020)
ISSN: 1932-6203
Popis: IntroductionMcArdle 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.MethodsWe 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.ResultsThe 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).DiscussionmRNA 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.
Databáze: OpenAIRE
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