{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:03:41Z","timestamp":1792785821752,"version":"4.5.0"},"reference-count":83,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100007388","name":"Fondazione Compagnia di San Paolo","doi-asserted-by":"publisher","award":["ROL 32561"],"award-info":[{"award-number":["ROL 32561"]}],"id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ricerca Corrente 2022"},{"name":"European Reference Network for Neuromuscular Diseases"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Muscular dystrophies are a heterogeneous group of genetic disorders associated with an aberrant inflammatory response, that contributes to disease progression impairing regeneration and inducing fibrosis. Sarcoglycanopathies are recessively inherited limb-girdle muscular dystrophies (LGMDRs), in which the role of inflammation and its association with disease severity remains poorly understood, particularly in alpha-sarcoglycanopathy (LGMDR3).<\/jats:p>\n                  <jats:p>This study characterizes skeletal muscle and peripheral inflammatory signatures in 16 LGMDR3 patients and 8 unaffected individuals through bulk RNA sequencing with additional validation in Sgca-null mice.<\/jats:p>\n                  <jats:p>Patients were classified into mild and severe groups based on alpha sarcoglycan (SGCA) expression in muscle biopsy. Peripheral immunophenotype was assessed via flow cytometry analysis of peripheral blood mononuclear cells (PBMC).<\/jats:p>\n                  <jats:p>Principal component analysis showed a clear separation of severe LGMDR3 from mild LGMDR3 and unaffected individuals, with the latter two groups overlapping. Unsupervised hierarchical clustering analysis of the most variable genes identified distinct gene expression profiles between severe and mild LGMDR3 samples. Severe LGMD3 showed overexpression of innate immune system and T-cell activation pathways, with higher abundance of inflammatory infiltrate, mainly monocytes, cytotoxic T cells and dendritic cells. Notably, severe LGMDR3 were characterized by enrichment of M1-polarized macrophages and pro-inflammatory chemokines, whereas M2-polarized monocytes predominated in mild cases. Similar inflammatory profiles were observed in Sgca-null mice. PBMC analysis revealed significantly increased CD8+, TH1 CD4+ lymphocytes and activated monocytes in LGMDR3 patients compared with controls. Severe LGMDR3 patients additionally showed overexpression of genes governing fibrosis and muscle tissue regeneration and exhibited a clustering pattern similar to Duchenne muscular dystrophy patients.<\/jats:p>\n                  <jats:p>In conclusion, this study represents the first comprehensive characterization of LGMDR3 immunological profiles and demonstrated that inflammation plays a significant role in severe disease pathogenesis. The distinct immune signatures separating severe from mild cases provide a foundation for developing targeted anti-inflammatory therapies that may benefit severe LGMDR3 patients with severe phenotype.<\/jats:p>","DOI":"10.1093\/brain\/awaf389","type":"journal-article","created":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:08:18Z","timestamp":1761307698000},"page":"1302-1318","source":"Crossref","is-referenced-by-count":3,"title":["Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease"],"prefix":"10.1093","volume":"149","author":[{"given":"Adriana","family":"Amaro","sequence":"first","affiliation":[{"name":"Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino , Genoa 16132 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Reggiani","sequence":"additional","affiliation":[{"name":"Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino , Genoa 16132 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Panicucci","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Petito","sequence":"additional","affiliation":[{"name":"Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino , Genoa 16132 ,","place":["Italy"]},{"name":"Department of Experimental Medicine (DIMES), University of Genoa , Genoa 16132 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Baratto","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Pintus","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Principi","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Antonini","sequence":"additional","affiliation":[{"name":"Department of Research and Diagnostics, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genny","family":"Del Zotto","sequence":"additional","affiliation":[{"name":"Department of Research and Diagnostics, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio Gaetano","family":"Vellone","sequence":"additional","affiliation":[{"name":"Pathology Unit, IRCCS Istituto Giannina Gaslini , Genova 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children\u2019s Hospital IRCCS , Rome 00146 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2256-0482","authenticated-orcid":false,"given":"Diego","family":"Lopergolo","sequence":"additional","affiliation":[{"name":"Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena , Siena 53100 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