Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD):
- 34 patients with BMD and 19 with DMD were included in the study,
- which lasted three years and consisted of collecting serum measurements that were then compared with clinical (phenotype severity) and biological (dystrophin expression in muscle) parameters.
- Twenty proteins of interest were identified in this way, some of which are involved in the immune response, the organisation of the extracellular matrix and haemostasis, but not in membrane leakage.
The authors emphasise the importance of measuring a-2 macroglobulin, which is linked to dystrophin expression and is found in higher quantities in Duchenne muscular dystrophy than in Becker muscular dystrophy, and which could be used to monitor the progression of the disease in therapeutic trials.
