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There is currently an urgent need for biomarkers that can be used to monitor the efficacy of experimental therapies for Duchenne Muscular Dystrophy (DMD) in clinical trials. Identification of novel protein biomarkers has been limited due to the massive complexity of the serum proteome and the presence of a small number of very highly abundant proteins. Here we have utilised an aptamer-based proteomics approach to profile 1,129 proteins in the serum of wild-type and mdx (dystrophin deficient) mice. The serum levels of 96 proteins were found to be significantly altered (P < 0.001, q < 0.01) in mdx mice. Additionally, systemic treatment with a peptide-antisense oligonucleotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression caused many of the differentially abundant serum proteins to be restored towards wild-type levels. Results for five leading candidate protein biomarkers (Pgam1, Tnni3, Camk2b, Cycs and Adamts5) were validated by ELISA in the mouse samples. Furthermore, ADAMTS5 was found to be significantly elevated in human DMD patient serum. This study has identified multiple novel, therapy-responsive protein biomarkers in the serum of the mdx mouse with potential utility in DMD patients.

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ADAM Proteins, ADAMTS5 Protein, Animals, Aptamers, Nucleotide, Biomarkers, Pharmacological, Blood Proteins, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Disease Models, Animal, Dystrophin, Gene Expression Profiling, Gene Expression Regulation, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Inbred mdx, Muscular Dystrophy, Duchenne, Oligonucleotides, Antisense, Phosphoric Monoester Hydrolases, Protein Kinases, Proteomics