American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside binding protein, was genetically engineered and injected into model mice:
- galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies;
- in treated mice, markers of inflammation and those of membrane fusion are effectively improved;
- studies on human cells deficient in dysferlin have produced similar results.
These data constitute proof of concept for future therapeutic trials in humans.
