Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
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
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.
antibody-based proteomics, disease severity biomarkers, Duchenne muscular dystrophy, plasma profilling, protein profiling
IdentifiersURN: urn:nbn:se:kth:diva-149211DOI: 10.15252/emmm.201303724ISI: 000339094500005ScopusID: 2-s2.0-84903740009OAI: oai:DiVA.org:kth-149211DiVA: diva2:738737
FunderEU, FP7, Seventh Framework Programme, 241665VinnovaKnut and Alice Wallenberg FoundationScience for Life Laboratory - a national resource center for high-throughput molecular bioscience
QC 201408192014-08-192014-08-182014-09-02Bibliographically approved