BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies

Sporadic inclusion body myositis (sIBM) is a rare disease which is difficult to diagnose. Muscle biopsy provides three prominent pathological findings: inflammation, mitochondrial abnormalities and fibber degeneration represented by the accumulation of protein depots constituted by β-amyloid peptide...

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Autores: Villarroya i Gombau, Francesc, Catalán García, Marc, Garrabou Tornos, Glòria, Morén Núñez, Constanza, Guitart Mampel, Mariona, González Casacuberta, Ingrid, Hernando, Adriana, Gallego Escuredo, José Miguel, Yubero Siles, Dèlia, Montero, Raquel, Selva O'Callaghan, Albert, Cardellach, Francesc, Grau, Josep Maria
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2015
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/219049
Acceso en línea:https://hdl.handle.net/2445/219049
Access Level:acceso abierto
Palabra clave:Miositis
Biòpsia
Inflamació
Myositis
Biopsy
Inflammation
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spelling BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathiesVillarroya i Gombau, FrancescCatalán García, MarcGarrabou Tornos, GlòriaMorén Núñez, ConstanzaGuitart Mampel, MarionaGonzález Casacuberta, IngridHernando, AdrianaGallego Escuredo, José MiguelYubero Siles, DèliaMontero, RaquelSelva O'Callaghan, AlbertCardellach, FrancescGrau, Josep MariaMiositisBiòpsiaInflamacióMyositisBiopsyInflammationSporadic inclusion body myositis (sIBM) is a rare disease which is difficult to diagnose. Muscle biopsy provides three prominent pathological findings: inflammation, mitochondrial abnormalities and fibber degeneration represented by the accumulation of protein depots constituted by β-amyloid peptide, among others. We aim to perform a screening in plasma of circulating molecules related to the putative etiopathogenesis of sIBM to determine potential surrogate biomarkers for diagnosis. Plasma from 21 sIBM patients and 20 age and gender-paired healthy controls were collected and stored at -80ºC. An additional population of patients with non-sIBM inflammatory myopathies was also included (9 patients with dermatomyositis and 5 with polymyositis). Circulating levels of inflammatory cytokines (IL-6 and TNF-α), mitochondrial-related molecules (free plasmatic mtDNA, FGF-21 and CoQ) and amyloidogenic-related molecules (BACE-1, PS-1 and sAPPβ) were assessed with magnetic bead-based assays, rt-PCR, ELISA and HPLC. Despite remarkable trends towards altered plasmatic expression of inflammatory and mitochondrial molecules (increased IL-6, TNF-α, circulating mtDNA and FGF-21 levels and decreased content in CoQ), only amyloidogenic degenerative markers including BACE-1, PS-1 and sAPPβ levels were significantly increased in plasma from sIBM patients compared to controls and other patients with non-sIBM inflammatory myopathies (p<0.05). Inflammatory, mitochondrial and amyloidogenic degeneration markers are altered in plasma of sIBM patients confirming their etiopathological implication in the disease. Sensitivity and specificity analysis show that BACE-1, PS-1 and sAPPβ represent a good predictive non-invasive tool for the diagnosis of sIBM, especially in distinguishing this disease from polymyositis.BioMed Central2025202520152025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion7 p.application/pdfhttps://hdl.handle.net/2445/219049Articles publicats en revistes (Medicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.2119/molmed.2015.00168Molecular Medicine, 2015, vol. 21, num.1, p. 817-823https://doi.org/10.2119/molmed.2015.00168(c) Molecular Medicine, 2015info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2190492026-05-29T05:05:01Z
dc.title.none.fl_str_mv BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
title BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
spellingShingle BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
Villarroya i Gombau, Francesc
Miositis
Biòpsia
Inflamació
Myositis
Biopsy
Inflammation
title_short BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
title_full BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
title_fullStr BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
title_full_unstemmed BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
title_sort BACE-1, PS-1 and sAPPβ levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies
dc.creator.none.fl_str_mv Villarroya i Gombau, Francesc
Catalán García, Marc
Garrabou Tornos, Glòria
Morén Núñez, Constanza
Guitart Mampel, Mariona
González Casacuberta, Ingrid
Hernando, Adriana
Gallego Escuredo, José Miguel
Yubero Siles, Dèlia
Montero, Raquel
Selva O'Callaghan, Albert
Cardellach, Francesc
Grau, Josep Maria
author Villarroya i Gombau, Francesc
author_facet Villarroya i Gombau, Francesc
Catalán García, Marc
Garrabou Tornos, Glòria
Morén Núñez, Constanza
Guitart Mampel, Mariona
González Casacuberta, Ingrid
Hernando, Adriana
Gallego Escuredo, José Miguel
Yubero Siles, Dèlia
Montero, Raquel
Selva O'Callaghan, Albert
Cardellach, Francesc
Grau, Josep Maria
author_role author
author2 Catalán García, Marc
Garrabou Tornos, Glòria
Morén Núñez, Constanza
Guitart Mampel, Mariona
González Casacuberta, Ingrid
Hernando, Adriana
Gallego Escuredo, José Miguel
Yubero Siles, Dèlia
Montero, Raquel
Selva O'Callaghan, Albert
Cardellach, Francesc
Grau, Josep Maria
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Miositis
Biòpsia
Inflamació
Myositis
Biopsy
Inflammation
topic Miositis
Biòpsia
Inflamació
Myositis
Biopsy
Inflammation
description Sporadic inclusion body myositis (sIBM) is a rare disease which is difficult to diagnose. Muscle biopsy provides three prominent pathological findings: inflammation, mitochondrial abnormalities and fibber degeneration represented by the accumulation of protein depots constituted by β-amyloid peptide, among others. We aim to perform a screening in plasma of circulating molecules related to the putative etiopathogenesis of sIBM to determine potential surrogate biomarkers for diagnosis. Plasma from 21 sIBM patients and 20 age and gender-paired healthy controls were collected and stored at -80ºC. An additional population of patients with non-sIBM inflammatory myopathies was also included (9 patients with dermatomyositis and 5 with polymyositis). Circulating levels of inflammatory cytokines (IL-6 and TNF-α), mitochondrial-related molecules (free plasmatic mtDNA, FGF-21 and CoQ) and amyloidogenic-related molecules (BACE-1, PS-1 and sAPPβ) were assessed with magnetic bead-based assays, rt-PCR, ELISA and HPLC. Despite remarkable trends towards altered plasmatic expression of inflammatory and mitochondrial molecules (increased IL-6, TNF-α, circulating mtDNA and FGF-21 levels and decreased content in CoQ), only amyloidogenic degenerative markers including BACE-1, PS-1 and sAPPβ levels were significantly increased in plasma from sIBM patients compared to controls and other patients with non-sIBM inflammatory myopathies (p<0.05). Inflammatory, mitochondrial and amyloidogenic degeneration markers are altered in plasma of sIBM patients confirming their etiopathological implication in the disease. Sensitivity and specificity analysis show that BACE-1, PS-1 and sAPPβ represent a good predictive non-invasive tool for the diagnosis of sIBM, especially in distinguishing this disease from polymyositis.
publishDate 2015
dc.date.none.fl_str_mv 2015
2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/219049
url https://hdl.handle.net/2445/219049
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.2119/molmed.2015.00168
Molecular Medicine, 2015, vol. 21, num.1, p. 817-823
https://doi.org/10.2119/molmed.2015.00168
dc.rights.none.fl_str_mv (c) Molecular Medicine, 2015
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Molecular Medicine, 2015
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 7 p.
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
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repository.mail.fl_str_mv
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