Is dystrophin in plasma a new biomarker for DMD?

European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD):

  • Using two antibodies specifically directed against dystrophin, fragments of this protein were found in the plasma of DMD patients, unlike in healthy subjects, DMD transmitters or patients with other neuromuscular diseases whose plasma did not contain any.
  • In parallel to this work, another approach using liquid chromatographic mass spectrometry allowed to find other fragments of dystrophin, this time in the plasma of healthy subjects and patients, confirming that this protein can indeed be detected in part.

This new non-invasive biomarker could be useful for the diagnosis of complex cases of DMD and for the follow-up of patients in clinical trials.

 

A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring. Rossi R, Johansson C, Heywood W et al. Int J Mol Sci. 2023 Mars.