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Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
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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
Immunology in the medical area Medical Genetics
URN: urn:nbn:se:uu:diva-230504DOI: 10.15252/emmm.201303724ISI: 000339094500005OAI: oai:DiVA.org:uu-230504DiVA: diva2:744583
Available from: 2014-09-08 Created: 2014-08-26 Last updated: 2014-09-08Bibliographically approved

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Pontén, Fredrik
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Molecular and Morphological PathologyScience for Life Laboratory, SciLifeLab
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