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Integrated multi-omics analysis for inferring molecular players in inclusion body myositis

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dc.contributor.author Cantó-Santos, Judith
dc.contributor.author Valls-Roca, Laura
dc.contributor.author Tobías, Ester
dc.contributor.author Oliva, Clara
dc.contributor.author García-García, Francesc Josep
dc.contributor.author Guitart-Mampel, Mariona
dc.contributor.author Andújar-Sánchez, Félix
dc.contributor.author Esteve-Codina, Anna
dc.contributor.author Martín-Mur, Beatriz
dc.contributor.author Padrosa, Joan
dc.contributor.author Aránega, Raquel
dc.contributor.author Moreno-Lozano, Pedro J.
dc.contributor.author Milisenda, José César
dc.contributor.author Artuch, Rafael
dc.contributor.author Grau-Junyent, Josep M.
dc.contributor.author Garrabou, Glòria
dc.date.accessioned 2023-12-18T07:05:22Z
dc.date.available 2023-12-18T07:05:22Z
dc.date.issued 2023
dc.identifier.citation Cantó-Santos J, Valls-Roca L, Tobías E, Oliva C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch R, Grau-Junyent JM, Garrabou G. Integrated multi-omics analysis for inferring molecular players in inclusion body myositis. Antioxidants (Basel). 2023 Aug 19;12(8):1639. DOI: 10.3390/antiox12081639
dc.identifier.issn 2076-3921
dc.identifier.uri http://hdl.handle.net/10230/58562
dc.description.abstract Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50. It is diagnosed based on clinical and histological findings in muscle related to inflammation, degeneration, and mitochondria. In relation to IBM, a shortage of validated disease models and a lack of biomarkers and effective treatments constitute an unmet medical need. To overcome these hurdles, we performed an omics analysis of multiple samples from IBM patients (saliva, fibroblasts, urine, plasma, and muscle) to gain insight into the pathophysiology of IBM. Degeneration was evident due to the presence of amyloid β peptide 1-42 (Aβ1-42) in the saliva of the analyzed IBM patients. The presence of metabolic disarrangements in IBM was indicated by an imbalanced organic acid profile in fibroblasts and urine. Specifically, abnormal levels of L-pyroglutamic and orotic acid were supported by the abnormal expression of related metabolites in plasma and urine (glutathione and pyrimidines) and the aberrant expression of upstream gene regulators (L2HGDH, IDH2, OPLAH, and ASL) in muscle. Combined levels of L-pyroglutamic and orotic acid displayed an outstanding biomarker signature in urine with 100% sensitivity and specificity. The confirmation of systemic metabolic disarrangements in IBM and the identification of novel biomarkers reported herein unveil novel insights that require validation in larger cohorts.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.relation.ispartof Antioxidants (Basel). 2023 Aug 19;12(8):1639
dc.rights © 2023 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/).
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Integrated multi-omics analysis for inferring molecular players in inclusion body myositis
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/antiox12081639
dc.subject.keyword Biomarker
dc.subject.keyword Inclusion body myositis (IBM)
dc.subject.keyword Metabolism
dc.subject.keyword Nucleotides
dc.subject.keyword Organic acids
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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