دورية أكاديمية
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
| العنوان: | Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy |
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| المؤلفون: | Strandberg, Kristin, Ayoglu, Burcu, Roos, Andreas, Reza, Mojgan, Niks, Erik, Signorelli, Mirko, Fasterius, Erik, Pontén, Fredrik, Lochmueller, Hanns, Domingos, Joana, Ala, Pierpaolo, Muntoni, Francesco, Aartsma-Rus, Annemieke, Spitali, Pietro, Nilsson, Peter, Szigyarto, Cristina Al-Khalili |
| بيانات النشر: | Uppsala universitet, Science for Life Laboratory, SciLifeLab Uppsala universitet, Klinisk och experimentell patologi KTH Royal Inst Technol, Sch Chem Biotechnol & Hlth, Dept Prot Sci, Stockholm, Sweden. KTH Royal Inst Technol, Dept Prot Sci, SciLifeLab, Stockholm, Sweden. Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England.;Leibniz Inst Analyt Wissensch ISAS, Dortmund, Germany. Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England. Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands. Leiden Univ, Med Ctr, Dept Biomed Data Sci, Leiden, Netherlands. Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England.;Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Freiburg, Germany.;Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat, Ctr Nacl Anal Gen CNAGCRG, Barcelona, Spain. UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.;Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands. UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England. UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.;UCL, Great Ormond St Inst Child Hlth, Natl Inst Hlth Res, London WC1N 1EH, England. Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England.;Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands. Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands. KTH Royal Inst Technol, Sch Chem Biotechnol & Hlth, Dept Prot Sci, Stockholm, Sweden.;KTH Royal Inst Technol, Dept Prot Sci, SciLifeLab, Stockholm, Sweden. IOS Press |
| سنة النشر: | 2020 |
| المجموعة: | Uppsala University: Publications (DiVA) |
| مصطلحات موضوعية: | Affinity-based proteomics, protein biomarkers, Duchenne muscular dystrophy, disease progression, serum and plasma, Clinical Laboratory Medicine, Klinisk laboratoriemedicin, Cell and Molecular Biology, Cell- och molekylärbiologi |
| الوصف: | Background: Duchenne Muscular Dystrophy is a severe, incurable disorder caused by mutations in the dystrophin gene. The disease is characterized by decreased muscle function, impaired muscle regeneration and increased inflammation. In a clinical context, muscle deterioration, is evaluated using physical tests and analysis of muscle biopsies, which fail to accurately monitor the disease progression. Objectives: This study aims to confirm and asses the value of blood protein biomarkers as disease progression markers using one of the largest longitudinal collection of samples. Methods: A total of 560 samples, both serum and plasma, collected at three clinical sites are analyzed using a suspension bead array platform to assess 118 proteins targeted by 250 antibodies in microliter amount of samples. Results: Nine proteins are confirmed as disease progression biomarkers in both plasma and serum. Abundance of these biomarkers decreases as the disease progresses but follows different trajectories. While carbonic anhydrase 3, microtubule associated protein 4 and collagen type I alpha 1 chain decline rather constantly over time, myosin light chain 3, electron transfer flavoprotein A, troponin T, malate dehydrogenase 2, lactate dehydrogenase B and nestin plateaus in early teens. Electron transfer flavoprotein A, correlates with the outcome of 6-minutes-walking-test whereas malate dehydrogenase 2 together with myosin light chain 3, carbonic anhydrase 3 and nestin correlate with respiratory capacity. Conclusions: Nine biomarkers have been identified that correlate with disease milestones, functional tests and respiratory capacity. Together these biomarkers recapitulate different stages of the disorder that, if validated can improve disease progression monitoring. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | 2020, 7:3, s. 231-246; JOURNAL OF NEUROMUSCULAR DISEASES, 2214-3599, 2020, 7:3, s. 231-246; orcid:0000-0002-8102-3356; orcid:0000-0003-0703-3940; orcid:0000-0003-2783-688X; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-452720Test; PMID 32390640; ISI:000685106600003 |
| DOI: | 10.3233/JND-190454 |
| الإتاحة: | https://doi.org/10.3233/JND-190454Test http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-452720Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.8EFF1A69 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3233/JND-190454 |
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