Potential proteomic biomarkers for monitoring clinical studies in Duchenne/Becker muscular dystrophy

Clinical proteomics is an evolving discipline that aims to identify new biomarker candidates of human disease to improve diagnosis, prognosis, treatment monitoring and the discovery of novel therapeutic targets. This article outlines the pathoproteomic characterization of dystrophinopathies, which are classified as muscle wasting diseases due to mutations in the DMD gene.

The Special Report focuses on the proteomic profiling of progressive Duchenne muscular dystrophy of early childhood and more benign and later-onset Becker muscular dystrophy. The literature search on proteomics and biomarker discovery in dystrophinopathies was conducted with the standard scientific literature databases PubMed and Google Scholar for the preparation of the general text of this article.

This report has outlined the biomedical value of the systematic proteomic characterization of tissue specimens and associated biofluids to establish novel biomarkers for monitoring clinical studies in muscular dystrophy. Both, mass spectrometry-based profiling approaches and high-plex/high-throughput proteomics platforms were shown to be suitable for the systematic study of complex changes versus adaptations in dystrophinopathy. The verification of promising disease indicators, especially minimally invasive biofluid markers of myonecrosis, chronic inflammation, disturbed energy metabolism and myofibrosis, using orthogonal methodology holds great potential for future clinical applications such as therapeutic monitoring.