{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:48:47Z","timestamp":1787028527286,"version":"build-2736575974"},"reference-count":111,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T00:00:00Z","timestamp":1704240000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondazione IRCCS C\u00e0 Granda, Ospedale Maggiore Policlinico 5x1000 Research Award"},{"name":"Fondo Europeo di Sviluppo Regionale 2014\u20132020"},{"name":"POR FESR 2014\u20132020"},{"name":"Ricerca Innovazione, and Gruppo familiari beta-sarcoglicanopatie, PR-0394, GFB-ONLUS"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mounting evidence underscores the intricate interplay between the immune system and skeletal muscles in Duchenne muscular dystrophy (DMD), as well as during regular muscle regeneration. While immune cell infiltration into skeletal muscles stands out as a prominent feature in the disease pathophysiology, a myriad of secondary defects involving metabolic and inflammatory pathways persist, with the key players yet to be fully elucidated. Steroids, currently the sole effective therapy for delaying onset and symptom control, come with adverse side effects, limiting their widespread use. Preliminary evidence spotlighting the distinctive features of T cell profiling in DMD prompts the immuno-characterization of circulating cells. A molecular analysis of their transcriptome and secretome holds the promise of identifying a subpopulation of cells suitable as disease biomarkers. Furthermore, it provides a gateway to unraveling new pathological pathways and pinpointing potential therapeutic targets. Simultaneously, the last decade has witnessed the emergence of novel approaches. The development and equilibrium of both innate and adaptive immune systems are intricately linked to the gut microbiota. Modulating microbiota-derived metabolites could potentially exacerbate muscle damage through immune system activation. Concurrently, genome sequencing has conferred clinical utility for rare disease diagnosis since innovative methodologies have been deployed to interpret the functional consequences of genomic variations. Despite numerous genes falling short as clinical targets for MD, the exploration of Tdark genes holds promise for unearthing novel and uncharted therapeutic insights. In the quest to expedite the translation of fundamental knowledge into clinical applications, the identification of novel biomarkers and disease targets is paramount. This initiative not only advances our understanding but also paves the way for the design of innovative therapeutic strategies, contributing to enhanced care for individuals grappling with these incapacitating diseases.<\/jats:p>","DOI":"10.3390\/ijms25010631","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T11:31:50Z","timestamp":1704281510000},"page":"631","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Advancing Biomarker Discovery and Therapeutic Targets in Duchenne Muscular Dystrophy: A Comprehensive Review"],"prefix":"10.3390","volume":"25","author":[{"given":"Monica","family":"Molinaro","sequence":"first","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2705-3984","authenticated-orcid":false,"given":"Yvan","family":"Torrente","sequence":"additional","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy"},{"name":"Stem Cell Laboratory, Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20100 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Villa","sequence":"additional","affiliation":[{"name":"Stem Cell Laboratory, Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20100 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Farini","sequence":"additional","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.molmed.2007.10.003","article-title":"New therapies for Duchenne muscular dystrophy: Challenges, prospects and clinical trials","volume":"13","author":"Cossu","year":"2007","journal-title":"Trends Mol. 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