Your browser doesn't support javascript.
loading
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra, Inés; Asensio-Peña, Sara; Garrido-Moraga, Rocío; Pinós, Tomàs; Domínguez-González, Cristina; Santalla, Alfredo; Nogales-Gadea, Gisela; Serrano-Lorenzo, Pablo; Andreu, Antoni L; Arenas, Joaquín; Zugaza, José L; Lucia, Alejandro; Martín, Miguel A.
Afiliação
  • García-Consuegra I; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.
  • Asensio-Peña S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Garrido-Moraga R; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.
  • Pinós T; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.
  • Domínguez-González C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Santalla A; Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
  • Nogales-Gadea G; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.
  • Serrano-Lorenzo P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Andreu AL; Department of Computer and Sport Sciences, Universidad Pablo de Olavide, 41013 Sevilla, Spain.
  • Arenas J; Grup de Recerca en Malalties Neuromusculars i Neuropediàtriques, Department of Neurosciences, Institut d'Investigacio en Ciencies de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Barcelona, Spain.
  • Zugaza JL; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.
  • Lucia A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Martín MA; EATRIS, European Infrastructure for Translational Medicine, 1019 Amsterdam, The Netherlands.
Int J Mol Sci ; 23(9)2022 Apr 22.
Article em En | MEDLINE | ID: mdl-35563042
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, were studied by quantitative protein expression using isobaric tags for relative and absolute quantitation (iTRAQ) followed by artificial neuronal networks (ANNs) and topology analysis. Protein candidate validation was performed by Western blot. Several proteins predominantly involved in the process of muscle contraction and/or calcium homeostasis, such as myosin, sarcoplasmic/endoplasmic reticulum calcium ATPase 1, tropomyosin alpha-1 chain, troponin isoforms, and alpha-actinin-3, showed significantly lower expression levels in the muscle of GSDV patients. These proteins could be potential biomarkers of the persistent muscle damage in the absence of prior exertion reported in GSDV patients. Further studies are needed to elucidate the molecular mechanisms by which PYGM controls the expression of these proteins.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo V / Proteoma Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo V / Proteoma Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article