{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:02:10Z","timestamp":1791000130554,"version":"4.1.0"},"reference-count":46,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T00:00:00Z","timestamp":1678233600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Duchenne Parent Project","award":["44\/2019"],"award-info":[{"award-number":["44\/2019"]}]},{"name":"Italian Duchenne Parent Project","award":["20NM06"],"award-info":[{"award-number":["20NM06"]}]},{"name":"NIHR Great Ormond Street Hospital BRC","award":["44\/2019"],"award-info":[{"award-number":["44\/2019"]}]},{"name":"NIHR Great Ormond Street Hospital BRC","award":["20NM06"],"award-info":[{"award-number":["20NM06"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease caused by pathogenic variations in the DMD gene. There is a need for robust DMD biomarkers for diagnostic screening and to aid therapy monitoring. Creatine kinase, to date, is the only routinely used blood biomarker for DMD, although it lacks specificity and does not correlate with disease severity. To fill this critical gap, we present here novel data about dystrophin protein fragments detected in human plasma by a suspension bead immunoassay using two validated anti-dystrophin-specific antibodies. Using both antibodies, a reduction of the dystrophin signal is detected in a small cohort of plasma samples from DMD patients when compared to healthy controls, female carriers, and other neuromuscular diseases. We also demonstrate the detection of dystrophin protein by an antibody-independent method using targeted liquid chromatography mass spectrometry. This last assay detects three different dystrophin peptides in all healthy individuals analysed and supports our finding that dystrophin protein is detectable in plasma. The results of our proof-of-concept study encourage further studies in larger sample cohorts to investigate the value of dystrophin protein as a low invasive blood biomarker for diagnostic screening and clinical monitoring of DMD.<\/jats:p>","DOI":"10.3390\/ijms24065215","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T02:33:16Z","timestamp":1678329196000},"page":"5215","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring"],"prefix":"10.3390","volume":"24","author":[{"given":"Rachele","family":"Rossi","sequence":"first","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Johansson","sequence":"additional","affiliation":[{"name":"Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Heywood","sequence":"additional","affiliation":[{"name":"Translational Mass Spectrometry Research Group, Genetics & Genomic Medicine Department, UCL Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heloise","family":"Vinette","sequence":"additional","affiliation":[{"name":"Translational Mass Spectrometry Research Group, Genetics & Genomic Medicine Department, UCL Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Tegel","sequence":"additional","affiliation":[{"name":"Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Jim\u00e9nez-Requena","sequence":"additional","affiliation":[{"name":"Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Torelli","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6990-1905","authenticated-orcid":false,"given":"Cristina","family":"Al-Khalili Szigyarto","sequence":"additional","affiliation":[{"name":"Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"},{"name":"Science for Life Laboratory, Department of Protein Science, KTH-Royal Institute of Technology, 11428 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8385-9870","authenticated-orcid":false,"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: One gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"ref_2","first-page":"1619","article-title":"The Dystrophinopathies","volume":"25","author":"Thangarajh","year":"2019","journal-title":"Continuum"},{"key":"ref_3","unstructured":"Morales, J.A., and Mahajan, K. 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