Discovery of Serum Protein Biomarkers in the mdx Mouse Model and Cross-Species Comparison to Duchenne Muscular Dystrophy Patients

Hathout, Y.; Marathi, R.L.; Rayavarapu, S.; et al.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration. Since current markers for DMD have limited specificity, efforts to expand the protein biomarker panel through comprehensive MS profiling are being explored. In this article, a concordant panel of serological biomarkers was identified in dystrophin-deficient mouse models – the naturally occurring mdx-23 and genetically engineered mdx-52 – and DMD patients by SILAM and label-free LC-MS/MS. These protein markers are associated with dystrophin deficiency and age-related muscle pathology, paving the way for their potential use as a readout tool for dystrophinopathies.