This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases.
Duchenne muscular dystrophy is an example of a monogenetic disease that primarily affects the neuromuscular system, but is characterised by a plethora of multisystem pathophysiological alterations. Recent achievements in dystrophinopathy research are described, with particular reference to the complexity of neuromuscular changes and alterations/adaptations of the organism at the proteome scale.
Based on a description of current applications of top-down and bottom-up proteomic approaches and their technical challenges, future systemic biological approaches are outlined. The holistic and integrative bioanalysis envisaged would involve the integration of various omics-type studies, including inter- and intra-proteomics as core disciplines for systematic protein assessments, with sophisticated biomolecular analyses, including physiology, molecular biology, biochemistry and histochemistry.
The results of integrated proteomics promise to be instrumental in improving our detailed knowledge of pathogenic mechanisms and multisystem dysfunction, in broadening the signature of available biomarkers of dystrophinopathy to improve diagnostic/prognostic procedures, and in advancing the identification of new therapeutic targets to treat Duchenne muscular dystrophy.
