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Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
KTH, School of Biotechnology (BIO), Proteomics and Nanobiotechnology. KTH, Centres, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0001-7843-2960
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2014 (English)In: EMBO Molecular Medicine, ISSN 1757-4676, E-ISSN 1757-4684, Vol. 6, no 7, 918-936 p.Article in journal (Refereed) Published
Abstract [en]

Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the BIO-NMD consortium from four geographically dispersed clinical sites to identify protein markers associated with muscular dystrophy using an antibody bead array platform with 384 antibodies. Based on concordance in statistical significance and confirmatory results obtained from analysis of both serum and plasma, we identified eleven proteins associated with muscular dystrophy, among which four proteins were elevated in blood from muscular dystrophy patients: carbonic anhydrase III (CA3) and myosin light chain 3 (MYL3), both specifically expressed in slow-twitch muscle fibers and mitochondrial malate dehydrogenase 2 (MDH2) and electron transfer flavo-protein A (ETFA). Using age-matched sub-cohorts, 9 protein profiles correlating with disease progression and severity were identified, which hold promise for the development of new clinical tools for management of dystrophinopathies.

Place, publisher, year, edition, pages
2014. Vol. 6, no 7, 918-936 p.
Keyword [en]
antibody-based proteomics, disease severity biomarkers, Duchenne muscular dystrophy, plasma profilling, protein profiling
National Category
Medical Biotechnology
URN: urn:nbn:se:kth:diva-149211DOI: 10.15252/emmm.201303724ISI: 000339094500005ScopusID: 2-s2.0-84903740009OAI: diva2:738737
EU, FP7, Seventh Framework Programme, 241665VinnovaKnut and Alice Wallenberg FoundationScience for Life Laboratory - a national resource center for high-throughput molecular bioscience

QC 20140819

Available from: 2014-08-19 Created: 2014-08-18 Last updated: 2014-09-02Bibliographically approved
In thesis
1. Affinity Arrays for Profiling Proteins and Autoantibody Repertoires
Open this publication in new window or tab >>Affinity Arrays for Profiling Proteins and Autoantibody Repertoires
2014 (English)Doctoral thesis, comprehensive summary (Other academic)
Place, publisher, year, edition, pages
Stockholm: KTH Royal Institute of Technology, 2014. xi, 159 p.
TRITA-BIO-Report, ISSN 1654-2312 ; 2014:12
National Category
Biomedical Laboratory Science/Technology
urn:nbn:se:kth:diva-150398 (URN)978-91-7595-209-3 (ISBN)
Public defence
2014-09-05, Inghesalen, Karolinska Institute, Tomtebodavägen 18 A, Solna, 10:00 (English)
Science for Life Laboratory - a national resource center for high-throughput molecular bioscience

QC 20140902

Available from: 2014-09-02 Created: 2014-09-02 Last updated: 2014-09-02Bibliographically approved

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Ayoglu, BurcuUhlén, MathiasSchwenk, Jochen M.Nilsson, Peter
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