{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:33:17Z","timestamp":1789446797476,"version":"build-2803163510"},"reference-count":120,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT 222352\/Z\/21\/Z"],"award-info":[{"award-number":["WT 222352\/Z\/21\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/P023215\/1"],"award-info":[{"award-number":["MR\/P023215\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S002472\/1"],"award-info":[{"award-number":["MR\/S002472\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FSHD Society, Friends research grant","award":["FSHS-82013-06"],"award-info":[{"award-number":["FSHS-82013-06"]}]},{"name":"Prinses Beatrix Fonds","award":["15-23"],"award-info":[{"award-number":["15-23"]}]},{"name":"Dutch FSHD Foundation"},{"name":"Romanian Ministry of European Funds","award":["P_37_762"],"award-info":[{"award-number":["P_37_762"]}]},{"name":"Romanian Ministry of European Funds","award":["103587"],"award-info":[{"award-number":["103587"]}]},{"name":"Turing-Roche Strategic Partnership"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy. FSHD is highly heterogeneous, with patients following a variety of clinical trajectories, complicating clinical trials. Skeletal muscle in FSHD undergoes fibrosis and fatty replacement that can be accelerated by inflammation, adding to heterogeneity. Well controlled molecular studies are thus essential to both categorize FSHD patients into distinct subtypes and understand pathomechanisms. Here, we further analyzed RNA-sequencing data from 24 FSHD patients, each of whom donated a biopsy from both a non-inflamed (TIRM\u2212) and inflamed (TIRM+) muscle, and 15 FSHD patients who donated peripheral blood mononucleated cells (PBMCs), alongside non-affected control individuals. Differential gene expression analysis identified suppression of mitochondrial biogenesis and up-regulation of fibroadipogenic progenitor (FAP) gene expression in FSHD muscle, which was particularly marked on inflamed samples. PBMCs demonstrated suppression of antigen presentation in FSHD. Gene expression deconvolution revealed FAP expansion as a consistent feature of FSHD muscle, via meta-analysis of 7 independent transcriptomic datasets. Clustering of muscle biopsies separated patients in an unbiased manner into clinically mild and severe subtypes, independently of known disease modifiers (age, sex, D4Z4 repeat length). Lastly, the first genome-wide analysis of alternative splicing in FSHD muscle revealed perturbation of autophagy, BMP2 and HMGB1 signalling. Overall, our findings reveal molecular subtypes of FSHD with clinical relevance and identify novel pathomechanisms for this highly heterogeneous condition.<\/jats:p>","DOI":"10.1093\/hmg\/ddad175","type":"journal-article","created":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T17:42:15Z","timestamp":1697737335000},"page":"182-197","source":"Crossref","is-referenced-by-count":17,"title":["FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation"],"prefix":"10.1093","volume":"33","author":[{"given":"Elise N","family":"Engquist","sequence":"first","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, King's College London , New Hunt's House, Guy's Campus, London SE1 1UL , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Greco","sequence":"additional","affiliation":[{"name":"Department of Neurology , Donders Institute for Brain, Cognition and Behaviour, , Nijmegen, 6525 GA , The Netherlands"},{"name":"Radboud University Medical Center , Donders Institute for Brain, Cognition and Behaviour, , Nijmegen, 6525 GA , The Netherlands"},{"name":"Department of Internal Medicine , Radboud Institute of Molecular Life Sciences (RIMLS) and Radboud Center of Infectious Diseases (RCI), , Geert Grooteplein Zuid 10, Nijmegen 6525 GA , The Netherlands"},{"name":"Radboud University Medical Center , Radboud Institute of Molecular Life Sciences (RIMLS) and Radboud Center of Infectious Diseases (RCI), , Geert Grooteplein Zuid 10, Nijmegen 6525 GA , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo A B","family":"Joosten","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine , Radboud Institute of Molecular Life Sciences (RIMLS) and Radboud Center of Infectious Diseases (RCI), , Geert Grooteplein Zuid 10, Nijmegen 6525 GA , The Netherlands"},{"name":"Radboud University Medical Center , Radboud Institute of Molecular Life Sciences (RIMLS) and Radboud Center of Infectious Diseases (RCI), , Geert Grooteplein Zuid 10, Nijmegen 6525 GA , The Netherlands"},{"name":"Department of Medical Genetics, Iuliu Hatieganu University of Medicine and Pharmacy , 400012, Cluj-Napoca , Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel G M","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Department of Neurology , Donders Institute for Brain, Cognition and Behaviour, , Nijmegen, 6525 GA , The Netherlands"},{"name":"Radboud University Medical Center , Donders Institute for Brain, Cognition and Behaviour, , Nijmegen, 6525 GA , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9562-3072","authenticated-orcid":false,"given":"Peter S","family":"Zammit","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, King's College London , New Hunt's House, Guy's Campus, London SE1 1UL , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher R S","family":"Banerji","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, King's College London , New Hunt's House, Guy's Campus, London SE1 1UL , United Kingdom"},{"name":"The Alan Turing Institute, The British Library , 96 Euston Road, London NW1 2DB , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,10,19]]},"reference":[{"key":"2024012011302096700_ref1","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","article-title":"Population-based incidence and prevalence of facioscapulohumeral dystrophy","volume":"83","author":"Deenen","year":"2014","journal-title":"Neurology"},{"key":"2024012011302096700_ref2","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/B978-0-444-64076-5.00035-1","article-title":"Facioscapulohumeral muscular dystrophy","volume":"148","author":"Tawil","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"2024012011302096700_ref3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/2044-5040-4-12","article-title":"Facioscapulohumeral dystrophy: the path to consensus on pathophysiology","volume":"4","author":"Tawil","year":"2014","journal-title":"Skelet Muscle"},{"key":"2024012011302096700_ref4","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/j.nmd.2014.05.012","article-title":"Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement","volume":"24","author":"Rijken","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"2024012011302096700_ref5","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1212\/WNL.0b013e3182897116","article-title":"Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size","volume":"80","author":"Statland","year":"2013","journal-title":"Neurology"},{"key":"2024012011302096700_ref6","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1212\/WNL.0b013e3182a84140","article-title":"Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy","volume":"81","author":"Lutz","year":"2013","journal-title":"Neurology"},{"key":"2024012011302096700_ref7","doi-asserted-by":"crossref","first-page":"e13695","DOI":"10.15252\/emmm.202013695","article-title":"Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7","volume":"13","author":"Banerji","year":"2021","journal-title":"EMBO Mol 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potential therapeutic target","volume":"51","author":"Heher","year":"2022","journal-title":"Redox Biol"},{"key":"2024012011302096700_ref35","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1093\/hmg\/ddz043","article-title":"PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2024012011302096700_ref36","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1093\/hmg\/ddaa079","article-title":"PAX7 target gene repression associates with FSHD progression and pathology over 1 year","volume":"29","author":"Banerji","year":"2020","journal-title":"Hum Mol Genet"},{"key":"2024012011302096700_ref37","doi-asserted-by":"crossref","first-page":"6842568","DOI":"10.1155\/2016\/6842568","article-title":"Oxidative stress-mediated skeletal muscle degeneration: molecules, mechanisms, and therapies","volume":"2016","author":"Choi","year":"2016","journal-title":"Oxidative Med Cell Longev"},{"key":"2024012011302096700_ref38","first-page":"2003","article-title":"Oxidative stress, mitochondrial damage and neurodegenerative diseases","volume":"8","author":"Guo","year":"2013","journal-title":"Neural Regen Res"},{"key":"2024012011302096700_ref39","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/j.1600-0404.2006.00724.x","article-title":"RAGE-NF-kB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy","volume":"115","author":"Macaione","year":"2007","journal-title":"Acta Neurol Scand"},{"key":"2024012011302096700_ref40","doi-asserted-by":"crossref","first-page":"7020295","DOI":"10.1155\/2017\/7020295","article-title":"Are antioxidants a potential therapy for FSHD? 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