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Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Lookup NU author(s): Dr Amina Chaouch, Professor Hanns Lochmuller, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Ayoglu B, Chaouch A, Lochmuller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Ponten F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlen M, Cirak S, 't Hoen PAC, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Szigyarto CA

Publication type: Article

Publication status: Published

Journal: EMBO Molecular Medicine

Year: 2014

Volume: 6

Issue: 7

Pages: 918-936

Print publication date: 01/07/2014

Online publication date: 11/06/2014

Acceptance date: 15/05/2014

Date deposited: 03/10/2014

ISSN (print): 1757-4676

ISSN (electronic): 1757-4684

Publisher: Wiley-Blackwell Publishing Ltd


DOI: 10.15252/emmm.201303724


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Funder referenceFunder name
Great Ormond Street Children's Charity
Medical Research Council (UK)
ProNova VINN Excellence Centre for Protein Technology (VINNOVA, Swedish Governmental Agency for Innovation Systems)
Knut and Alice Wallenberg Foundation
SciLifeLab Stockholm
TREAT-NMD Alliance
036825TREAT-NMD (EU FP6)
241665European Community