Serum protein biomarker signature of Duchenne muscular dystrophy
In contrast to invasive skeletal muscle biopsies and the associated complexity of tissue sampling techniques and potential detrimental side effects, the alternative application of liquid biopsy procedures has considerable advantages concerning minimal invasiveness, repeated sampling options, assay r...
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PAGEPress Publications
2025-05-01
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| Series: | European Journal of Translational Myology |
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| Online Access: | https://www.pagepressjournals.org/bam/article/view/13956 |
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| author | Paul Dowling Elisa Negroni Capucine Trollet Margit Zweyer Dieter Swandulla Kay Ohlendieck |
| author_facet | Paul Dowling Elisa Negroni Capucine Trollet Margit Zweyer Dieter Swandulla Kay Ohlendieck |
| author_sort | Paul Dowling |
| collection | DOAJ |
| description | In contrast to invasive skeletal muscle biopsies and the associated complexity of tissue sampling techniques and potential detrimental side effects, the alternative application of liquid biopsy procedures has considerable advantages concerning minimal invasiveness, repeated sampling options, assay robustness and cost effectiveness. This article outlines the current status of serum biomarkers used for diagnosing and characterizing Duchenne muscular dystrophy (DMD), a primary muscle wasting disease of early childhood due to primary abnormalities in the extremely large DMD gene. Reviewed are important aspects of the discovery, characterization and diagnostic value of biofluid-based protein markers of dystrophinopathy. This includes an overview of traditional general skeletal muscle damage markers, such as creatine kinase, myoglobin and lactate dehydrogenase, which have been used for many decades in clinical applications to evaluate patients with muscular weakness. In addition, this article outlines the biochemical identification of novel biomarker candidates focusing on the usage of mass spectrometry-based proteomic surveys to establish comprehensive profiles of protein alterations in dystrophinopathy. Pathoproteomic serum markers of myonecrosis with great potential for improved patient screening, differential diagnosis, stage-specific prognosis and therapeutic monitoring include specific isoforms of muscle-derived cytosolic proteins, such as carbonic anhydrase isoform CA3 and fatty acid binding protein FABP3, as well as sarcomeric proteins, including specific isoforms of myosin light chain, myosin binding protein, troponin, and myomesin, in addition to peptide fragments derived from the giant protein titin. Biofluid-associated marker proteins of reactive myofibrosis include the extracellular matrix proteins fibronectin, osteopontin, collagen and matrix-metalloproteinases.
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| format | Article |
| id | doaj-art-dfb0aa5b4f44418eb1cd8fdb5b5d2171 |
| institution | DOAJ |
| issn | 2037-7452 2037-7460 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | PAGEPress Publications |
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| series | European Journal of Translational Myology |
| spelling | doaj-art-dfb0aa5b4f44418eb1cd8fdb5b5d21712025-08-20T03:22:15ZengPAGEPress PublicationsEuropean Journal of Translational Myology2037-74522037-74602025-05-0110.4081/ejtm.2025.13956Serum protein biomarker signature of Duchenne muscular dystrophyPaul Dowling0Elisa Negroni1Capucine Trollet2Margit Zweyer3Dieter Swandulla4Kay Ohlendieck5Department of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland; Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth, Co. KildareCentre for Research in Myology U974, Sorbonne Université, INSERM, Myology Institute, ParisCentre for Research in Myology U974, Sorbonne Université, INSERM, Myology Institute, ParisGerman Centre for Neurodegenerative Diseases, BonnInstitute of Physiology, Medical Faculty, University of Bonn, BonnDepartment of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland; Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth, Co. KildareIn contrast to invasive skeletal muscle biopsies and the associated complexity of tissue sampling techniques and potential detrimental side effects, the alternative application of liquid biopsy procedures has considerable advantages concerning minimal invasiveness, repeated sampling options, assay robustness and cost effectiveness. This article outlines the current status of serum biomarkers used for diagnosing and characterizing Duchenne muscular dystrophy (DMD), a primary muscle wasting disease of early childhood due to primary abnormalities in the extremely large DMD gene. Reviewed are important aspects of the discovery, characterization and diagnostic value of biofluid-based protein markers of dystrophinopathy. This includes an overview of traditional general skeletal muscle damage markers, such as creatine kinase, myoglobin and lactate dehydrogenase, which have been used for many decades in clinical applications to evaluate patients with muscular weakness. In addition, this article outlines the biochemical identification of novel biomarker candidates focusing on the usage of mass spectrometry-based proteomic surveys to establish comprehensive profiles of protein alterations in dystrophinopathy. Pathoproteomic serum markers of myonecrosis with great potential for improved patient screening, differential diagnosis, stage-specific prognosis and therapeutic monitoring include specific isoforms of muscle-derived cytosolic proteins, such as carbonic anhydrase isoform CA3 and fatty acid binding protein FABP3, as well as sarcomeric proteins, including specific isoforms of myosin light chain, myosin binding protein, troponin, and myomesin, in addition to peptide fragments derived from the giant protein titin. Biofluid-associated marker proteins of reactive myofibrosis include the extracellular matrix proteins fibronectin, osteopontin, collagen and matrix-metalloproteinases. https://www.pagepressjournals.org/bam/article/view/13956Dystrophinopathyliquid biopsymuscle proteomicsmyofibrosismyonecrosis |
| spellingShingle | Paul Dowling Elisa Negroni Capucine Trollet Margit Zweyer Dieter Swandulla Kay Ohlendieck Serum protein biomarker signature of Duchenne muscular dystrophy European Journal of Translational Myology Dystrophinopathy liquid biopsy muscle proteomics myofibrosis myonecrosis |
| title | Serum protein biomarker signature of Duchenne muscular dystrophy |
| title_full | Serum protein biomarker signature of Duchenne muscular dystrophy |
| title_fullStr | Serum protein biomarker signature of Duchenne muscular dystrophy |
| title_full_unstemmed | Serum protein biomarker signature of Duchenne muscular dystrophy |
| title_short | Serum protein biomarker signature of Duchenne muscular dystrophy |
| title_sort | serum protein biomarker signature of duchenne muscular dystrophy |
| topic | Dystrophinopathy liquid biopsy muscle proteomics myofibrosis myonecrosis |
| url | https://www.pagepressjournals.org/bam/article/view/13956 |
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