The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in the Mtm1-/y mouse model:
- no functional or morphological abnormalities were found in the liver;
- alongside the disturbances in muscle development, inflammation, cell adhesion and oxidative phosphorylation found in skeletal muscle, the cardiac muscle showed only minimal functional alterations with no clear structural defects;
- transcriptomic analyses of the cardiac muscle revealed a deregulation that was the opposite of that in skeletal muscle: cell adhesion and beta integrin trafficking are activated in skeletal muscle and inhibited in cardiac muscle, while mitochondrial function is inhibited in skeletal muscle and activated in cardiac muscle.
These data suggest the existence of compensatory mechanisms that preserve cardiac function, which could represent a therapeutic avenue in myotubular myopathy.
