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This incurable condition can severely impair muscle function, ultimately resulting in a loss of ambulation. A thorough analysis of molecular factors associated with the varying degrees of muscle impairment in FSHD is still lacking. This study investigates the molecular mechanisms and biomarkers in the biceps brachii of FSHD patients, classified according to the FSHD clinical score, the A-B-C-D classification scheme, and global proteomic variation. Our findings reveal distinct metabolic signatures and compensatory responses in patients. In severe cases, we observe pronounced metabolic dysfunction, marked by dysregulated glycolysis, activation of the reductive pentose phosphate pathway (PPP), a shift toward a reductive TCA cycle, suppression of oxidative phosphorylation, and an overproduction of antioxidants that is not matched by an increase in the redox cofactors needed for their function. This imbalance culminates in reductive stress, exacerbating muscle wasting and inflammation. In contrast, mild cases show metabolic adaptations that mitigate stress by activating polyols and the oxidative PPP, preserving partial energy flow through the oxidative TCA cycle, which supports mitochondrial function and energy balance. Furthermore, activation of the hexosamine biosynthetic pathway promotes autophagy, protecting muscle cells from apoptosis. In conclusion, our proteomic data indicate that specific metabolic alterations characterize both mild and severe FSHD patients. Molecules identified in mild cases may represent potential diagnostic and therapeutic targets for FSHD.<\/jats:p>","DOI":"10.3390\/antiox13111406","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T05:36:45Z","timestamp":1731908205000},"page":"1406","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative\/Reductive Stress Contributing to the Loss of Muscle Function"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4718-0307","authenticated-orcid":false,"given":"Manuela","family":"Moriggi","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, Via Luigi Mangiagalli 31, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7756-9567","authenticated-orcid":false,"given":"Lucia","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples \u201cFederico II\u201d, Via Sergio Pansini 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6374-3325","authenticated-orcid":false,"given":"Enrica","family":"Torretta","sequence":"additional","affiliation":[{"name":"Laboratory of Proteomics and Lipidomics, IRCCS Orthopedic Institute Galeazzi, Via R. Galeazzi 4, 20161 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Zoppi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples \u201cFederico II\u201d, Via Sergio Pansini 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0615-3580","authenticated-orcid":false,"given":"Beatrice","family":"Arosio","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health, University of Milan, Via della Commenda 19, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7423-3793","authenticated-orcid":false,"given":"Evelyn","family":"Ferri","sequence":"additional","affiliation":[{"name":"IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Foundation, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Castegna","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnologies and Environment, University of Bari ALDO MORO, Via Orabona 4, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatric Unit, IRCCS Istituto Giannina Gaslini, DINOGMI-University of Genova, Via Gerolamo Gaslini 5, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2996-6912","authenticated-orcid":false,"given":"Cecilia","family":"Gelfi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, Via Luigi Mangiagalli 31, 20133 Milan, Italy"},{"name":"Laboratory of Proteomics and Lipidomics, IRCCS Orthopedic Institute Galeazzi, Via R. Galeazzi 4, 20161 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7701-728X","authenticated-orcid":false,"given":"Daniele","family":"Capitanio","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, Via Luigi Mangiagalli 31, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"18157","DOI":"10.1073\/pnas.0708659104","article-title":"DUX4, a Candidate Gene of Facioscapulohumeral Muscular Dystrophy, Encodes a Transcriptional Activator of PITX1","volume":"104","author":"Dixit","year":"2007","journal-title":"Proc. Natl. Acad. Sci. 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