{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:59:06Z","timestamp":1792735146382,"version":"4.5.0"},"reference-count":29,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:p>Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies in adults, displaying a progressive, frequently asymmetric involvement of a typical muscles\u2019 pattern. FSHD is associated with epigenetic derepression of the polymorphic D4Z4 repeat on chromosome 4q, leading to DUX4 retrogene toxic expression in skeletal muscles. Identifying biomarkers that correlate with disease severity would facilitate clinical management and assess potential FSHD therapeutics\u2019 efficacy. Objectives: This study purpose was to analyze serum cytokines to identify potential biomarkers in a large cohort of adult patients with FSHD. Methods: We retrospectively measured the levels of 20 pro-inflammatory and regulatory cytokines in sera from 100 genetically confirmed adult FSHD1 patients. Associations between cytokine concentrations and various clinical scores were investigated. We then measured serum and muscle interleukin 6 (IL-6) levels in a validated FSHD-like mouse model, ranging in severity and DUX4 expression. Results: IL-6 was identified as the only cytokine with a concentration correlating with several clinical severity and functional scores, including Clinical Severity Score, Manual Muscle Testing sum score, Brooke and Vignos scores. Further, FSHD patients displayed overall IL-6 levels more than twice high as control, and patients with milder phenotypes exhibited lower IL-6 serum concentration than those with severe muscular weakness. Lastly, an FSHD-like mouse model analysis confirmed that IL-6 levels positively correlate with disease severity and DUX4 expression. Conclusions: Serum IL-6, therefore, shows promise as a serum biomarker of FSHD severity in a large cohort of FSHD1 adult patients.<\/jats:p>","DOI":"10.3233\/jnd-210711","type":"journal-article","created":{"date-parts":[[2021,8,24]],"date-time":"2021-08-24T14:25:51Z","timestamp":1629815151000},"page":"83-93","source":"Crossref","is-referenced-by-count":36,"title":["Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy"],"prefix":"10.1177","volume":"9","author":[{"given":"Marilyn","family":"Gros","sequence":"first","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia M.","family":"Nunes","sequence":"additional","affiliation":[{"name":"University of Nevada, Reno School of Medicine, Department of Pharmacology, 1664 N Virginia St, Reno, NV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Daoudlarian","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre National de la Recherche Scientifique, Institut de Pharmacologie Mol\u00e9culaire et Cellulaire, 660 Route des Lucioles, Valbonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Pini","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Martinuzzi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre National de la Recherche Scientifique, Institut de Pharmacologie Mol\u00e9culaire et Cellulaire, 660 Route des Lucioles, Valbonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre National de la Recherche Scientifique, Institut de Pharmacologie Mol\u00e9culaire et Cellulaire, 660 Route des Lucioles, Valbonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Ramirez","sequence":"additional","affiliation":[{"name":"University of Nevada, Reno School of Medicine, Department of Pharmacology, 1664 N Virginia St, Reno, NV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Puma","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Villa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolae","family":"Grecu","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00e9my","family":"Garcia","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, D\u00e9partement de r\u00e9\u00e9ducation, P\u00f4le Neurosciences Rhumatologie, 30 Voie Romaine, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Sol\u00e9","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Bordeaux, Service de Neurologie, Place Am\u00e9lie Raba-L\u00e9on, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul","family":"Juntas-Morales","sequence":"additional","affiliation":[{"name":"Centre Hospitalier 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre Hospitalier Universitaire de Nice, Syst\u00e8me Nerveux P\u00e9riph\u00e9rique & Muscle, H\u00f4pital Pasteur 2, 30 voie Romaine CS, Nice, France"},{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, Centre National de la Recherche Scientifique, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Institute for Research on Cancer and Aging of Nice, 28 Avenue de Valombrose, Nice, France"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire Oncoage, CHU Nice, Universit\u00e9 C\u00f4te d\u2019Azur (UCA), Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"key":"10.3233\/JND-210711_ref1","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral 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