Academic Journal
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
| العنوان: | Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis |
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| المؤلفون: | 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 Gurruchaga, José Luis, Lucia, Alejandro, Martín, Miguel A. |
| بيانات النشر: | MDPI |
| سنة النشر: | 2022 |
| المجموعة: | ADDI: Repositorio Institucional de la Universidad del País Vasco / Euskal Herriko Unibertsitatea (UPV/EHU - Basque Country University) |
| مصطلحات موضوعية: | PYGM, myophosphorylase, proteomics, McArdle disease, GSDV, iTRAQ, skeletal muscle, metabolic myopathy, protein biomarkers |
| الوصف: | 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. ; This research was funded by Instituto de Salud Carlos III (ISCIII) y FEDER (ERDF) funds “a way to construct Europe”; Ministerio de Ciencia e Innovación (Madrid, Spain), grant numbers (PI17/02052 and PI19/01313). G.N.-G is supported by a ISCIII contract CPII19/00021. P.S.-L. is supported by a ISCIII-CIBERER contract. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1422-0067 |
| Relation: | info:eu-repo/grantAgreement/MICINN/PI19/01313; info:eu-repo/grantAgreement/MICINN/PI17/02052; https://www.mdpi.com/1422-0067/23/9/4650/htm; International Journal of Molecular Sciences 23(9) : (2022) // Article ID 4650; http://hdl.handle.net/10810/56595 |
| DOI: | 10.3390/ijms23094650 |
| الاتاحة: | http://hdl.handle.net/10810/56595 https://doi.org/10.3390/ijms23094650 |
| Rights: | info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/3.0/es/ ; 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
| رقم الانضمام: | edsbas.7AA2BBC7 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14220067 |
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| DOI: | 10.3390/ijms23094650 |