Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

© 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Detalles Bibliográficos
Autores: Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K., Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G., Mori-Yoshimura, Madoka, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Díaz-Manera, Jordi, Straub, Volker, The Jain COS Consortium
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/351975
Acceso en línea:http://hdl.handle.net/10261/351975
Access Level:acceso abierto
Palabra clave:Myostatin
Follistatin
Muscular dystrophy
Dysferlinopathy
Limb girdle muscular dystrophy R2
Miyoshi myopathy
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spelling Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathyMoore, UrsulaFernández-Simón, EstherSchiava, MarianelaCox, DanGordish-Dressman, HeatherJames, Meredith K.Mayhew, AnnaWilson, IanGuglieri, MichelaRufibach, LauraBlamire, AndrewCarlier, Pierre G.Mori-Yoshimura, MadokaDay, John W.Jones, Kristi J.Bharucha-Goebel, Diana X.Salort-Campana, EmmanuellePestronk, AlanWalter, Maggie C.Paradas, CarmenStojkovic, TanyaBravver, ElenaPegoraro, ElenaMendell, Jerry R.Bushby, KateDíaz-Manera, JordiStraub, VolkerThe Jain COS ConsortiumMyostatinFollistatinMuscular dystrophyDysferlinopathyLimb girdle muscular dystrophy R2Miyoshi myopathy© 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in dysferlinopathy, an autosomal recessively inherited muscular dystrophy. Myostatin was quantified twice with a three-year interval in 76 patients with dysferlinopathy and 38 controls. Follistatin was quantified in 62 of these patients at the same timepoints, and in 31 controls. Correlations with motor function, muscle fat fraction and contractile cross-sectional area were performed. A regression model was used to account for confounding variables. Baseline myostatin, but not follistatin, correlated with baseline function and MRI measures. However, in individual patients, three-year change in myostatin did not correlate with functional or MRI changes. Linear modelling demonstrated that function, serum creatine kinase and C-reactive protein, but not age, were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation but not rate of change of functional or MRI measures, even when relative inhibition with follistatin was considered. With adjustment for extra-muscular causes of variation, myostatin could form a surrogate measure of functional ability or muscle mass, however myostatin inhibition does not form a promising treatment target in dysferlinopathy.Biomaterial was provided by the Newcastle MRC Centre Biobank for Rare & Neuromuscular Diseases, which is part of The John Walton Muscular Dystrophy Research Centre. This facility is supported by the NIHR Newcastle Biomedical Research Centre.Peer reviewedElsevierJohn Walton Centre Muscular Dystrophy Research CentreNational Institute for Health and Care Research (US)Newcastle Biomedical Research CentreConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242023info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/351975reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.nmd.2023.01.001https://doi.org/10.1016/j.nmd.2023.01.001Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3519752026-05-22T06:33:51Z
dc.title.none.fl_str_mv Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
title Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
spellingShingle Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Moore, Ursula
Myostatin
Follistatin
Muscular dystrophy
Dysferlinopathy
Limb girdle muscular dystrophy R2
Miyoshi myopathy
title_short Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
title_full Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
title_fullStr Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
title_full_unstemmed Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
title_sort Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
dc.creator.none.fl_str_mv Moore, Ursula
Fernández-Simón, Esther
Schiava, Marianela
Cox, Dan
Gordish-Dressman, Heather
James, Meredith K.
Mayhew, Anna
Wilson, Ian
Guglieri, Michela
Rufibach, Laura
Blamire, Andrew
Carlier, Pierre G.
Mori-Yoshimura, Madoka
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Bravver, Elena
Pegoraro, Elena
Mendell, Jerry R.
Bushby, Kate
Díaz-Manera, Jordi
Straub, Volker
The Jain COS Consortium
author Moore, Ursula
author_facet Moore, Ursula
Fernández-Simón, Esther
Schiava, Marianela
Cox, Dan
Gordish-Dressman, Heather
James, Meredith K.
Mayhew, Anna
Wilson, Ian
Guglieri, Michela
Rufibach, Laura
Blamire, Andrew
Carlier, Pierre G.
Mori-Yoshimura, Madoka
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Bravver, Elena
Pegoraro, Elena
Mendell, Jerry R.
Bushby, Kate
Díaz-Manera, Jordi
Straub, Volker
The Jain COS Consortium
author_role author
author2 Fernández-Simón, Esther
Schiava, Marianela
Cox, Dan
Gordish-Dressman, Heather
James, Meredith K.
Mayhew, Anna
Wilson, Ian
Guglieri, Michela
Rufibach, Laura
Blamire, Andrew
Carlier, Pierre G.
Mori-Yoshimura, Madoka
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Bravver, Elena
Pegoraro, Elena
Mendell, Jerry R.
Bushby, Kate
Díaz-Manera, Jordi
Straub, Volker
The Jain COS Consortium
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv John Walton Centre Muscular Dystrophy Research Centre
National Institute for Health and Care Research (US)
Newcastle Biomedical Research Centre
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Myostatin
Follistatin
Muscular dystrophy
Dysferlinopathy
Limb girdle muscular dystrophy R2
Miyoshi myopathy
topic Myostatin
Follistatin
Muscular dystrophy
Dysferlinopathy
Limb girdle muscular dystrophy R2
Miyoshi myopathy
description © 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/351975
url http://hdl.handle.net/10261/351975
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.nmd.2023.01.001
https://doi.org/10.1016/j.nmd.2023.01.001

dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
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