European researchers, including two from the Institute of Myology, report on progress in serum biomarkers for Duchenne muscular dystrophy (DMD):
- classical markers, such as creatine phosphokinase, myoglobin and lactate dehydrogenase, are still valid but have serious limitations,
- biomarkers derived from mass spectrometry studies now provide important and very often reliable information, particularly in cases of muscle necrosis,
- distinguishing cytosolic proteins, such as one of the isoforms of carbonic anhydrase (CA3) or the FABP3 protein, from sarcomeric proteins such as derivatives of the myosin light chain, troponin, myomesin or titin.
These biomarkers, whether in serum or urine, are useful not only for diagnosing patients but also for monitoring them. They could eventually replace the information provided by muscle biopsy, which has the major disadvantage of being an invasive method.
