French researchers, supported by AFM-Téléthon, have been investigating the pathophysiological mechanisms behind the cardiopathies frequently observed in primary desminopathies, the most common form of myofibrillar myopathy:
- cardiomyocytes derived from induced pluripotent stem cells with the DESE439K mutation were used as a model,
- Their abnormalities were compared with those observed in cardiac tissue samples obtained from patients and five healthy donors,
- mitochondrial structural and functional abnormalities were in the foreground, and proved reversible after the addition of normal mitochondria to the medium.
This work could have important implications for the therapeutic approach to this type of myopathy.
