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From left to right, Marc Pauper and Sergi Beltran, from the Bioinformatics Unit at CNAG. Photo / CNAG
 21.05.2025

A new study from CNAG highlights the potential of proteomics for the diagnosis of neuromuscular diseases

A new review led by researchers at CNAG, based at the Barcelona Science Park, analyzes the current opportunities and challenges of mass spectrometry-based proteomics in the study of genetic muscle diseases. Published in the journal Biomolecules, the study highlights the advantages of mass spectrometry over previous low-throughput and costly techniques, positioning it as a key tool in personalized medicine, therapeutic monitoring, and large-scale screening programs, offering more precise and effective solutions for patients.

Neuromuscular diseases, although rare, affect between 8 and 16 million people worldwide. These conditions impact both children and adults, causing mobility and coordination problems that severely affect daily life. This was the case of a 22-year-old woman in Germany who visited the University Hospital Essen with muscle weakness, atrophy, and cardiomyopathy, among other symptoms. Alongside extensive genetic testing, proteomic profiling provided the missing piece of the puzzle. Her story is one of the clinical cases included in the recent review led by CNAG.

The integration of proteomic analysis with genomic data was led by Marc Pauper and Sergi Beltran from the Bioinformatics Unit at CNAG, in collaboration with the Leibniz Institute for Analytical Sciences (ISAS) and the Department of Neurology at the Faculty of Medicine and the University Hospital of Düsseldorf. The study highlights the potential of proteomics to advance the diagnosis and research of neuromuscular diseases, showcasing its practical applications through three case studies.

Neuromuscular diseases are notoriously difficult to diagnose due to the complexity of skeletal muscle—a vital tissue responsible for movement and metabolism, representing 40% of total body mass—as well as the existence of more than 200 genetic subtypes and overlapping clinical symptoms. Proteomic analysis is becoming an increasingly valuable tool to complement standard genetic testing. Traditionally, diagnosis relied on techniques such as immunoblotting and immunostaining, along with histological studies of muscle biopsy samples—methods that are invasive, time-consuming, and limited in scope. The cases published in this review demonstrate that proteomics offers a promising opportunity to shorten the diagnostic journey, enabling the study of thousands of proteins in a single experiment with a minimal amount of biological material.

Marc Pauper, co-first author of the publication, notes: “Building on the groundbreaking work in genomics, proteomics represents an exciting new leap forward: not only helping to better understand diseases but also providing answers where genetics alone leaves unresolved questions.”

The study emphasizes that overcoming operational challenges is essential to unlocking the full potential of mass spectrometry in clinical practice. Key priorities include optimizing turnaround times, standardizing protocols, and improving data analysis tools. Additionally, the review highlights targeted proteomics and liquid biopsies as less invasive alternatives to muscle biopsies, offering improved diagnostic precision and enabling more personalized treatments. As technology advances, mass spectrometry is set to become an essential tool in personalized medicine, therapeutic monitoring, and large-scale screening programs, providing more effective solutions for patients.

» Link to the news: web del CNAG [+]

» Article of reference: Pauper, Marc, et al. «Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future». Biomolecules, vol. 15, n.o 1, enero de 2025, p. 130. DOI.org (Crossref), https://doi.org/10.3390/biom15010130.