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Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Lookup NU author(s): Dr Amina Chaouch, Professor Michela GuglieriORCiD, Professor Volker StraubORCiD, Professor Hanns Lochmuller



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


PurposeTo identify and validate serum biomarkers for the progression of Duchenne muscular dystrophy (DMD) using a MS-based bottom-up pipeline.Experimental designWe used a bottom-up proteomics approach, including a protein concentration equalization step, different proteolytic digestions, and MS detection schemes, to identify candidate biomarkers in serum samples from control subjects and DMD patients. Fibronectin was chosen for follow-up based on the differences in peptide spectral counts and sequence coverage observed between the DMD and control groups. Subsequently, fibronectin levels were determined with ELISA in 68 DMD patients, 38 milder Becker muscular dystrophy patients, 33 patients with other neuromuscular disorders, and 15 age-matched adult and child controls.ResultsThere was a significant increase in fibronectin levels in DMD patients compared to age-matched controls. Fibronectin levels in patients with Becker muscular dystrophy, Bethlem myopathy, or myasthenia gravis were comparable to control levels. Progressive elevation in fibronectin levels was observed in longitudinal samples from 22 DMD patients followed up for a period of 6 months up to 4 years.Conclusion and clinical relevanceThis study suggests that serum fibronectin levels may constitute a promising biomarker to monitor disease progression in DMD patients.

Publication metadata

Author(s): Martin FC, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmuller H, Niks EH, Verschuuren JJGM, Aartsma-Rus A, Deelder AM, van der Burgt YEM, 't Hoen PAC

Publication type: Article

Publication status: Published

Journal: Proteomics - Clinical Applications

Year: 2014

Volume: 8

Issue: 3-4

Pages: 269-278

Print publication date: 01/04/2014

Online publication date: 11/03/2014

Acceptance date: 17/11/2013

Date deposited: 15/10/2014

ISSN (print): 1862-8346

ISSN (electronic): 1862-8354

Publisher: Wiley - VCH Verlag GmbH & Co. KGaA


DOI: 10.1002/prca.201300072


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Funder referenceFunder name
2010-0921Association Francaise contre les Myopathies Grant
241665European Union
305121European Union
305444European Union