Back

Identification of bazedoxifene for the treatment of LGMD R2 by high throughput screening.

Bruge, C.; Bourg, N.; PELLIER, E.; Tournois, J.; Polentes, J.; BENABIDES, M.; Grossi, N.; Bigot, A.; Brureau, A.; Richard, I.; Nissan, X.

2024-03-04 pharmacology and toxicology
10.1101/2024.02.28.582550 bioRxiv
Show abstract

LGMD R2 is a rare genetic disorder characterized by progressive proximal muscle weakness and wasting caused by a recessive loss of function of dysferlin, a transmembrane protein controlling plasma membrane repair in skeletal muscles. We report here the development of an in vitro high-throughput assay using immortalized myoblasts and monitored reallocation of an aggregated mutant form of dysferlin (DYSFL1341P). Using this assay, we screened a library of 2239 drugs and identified two autophagy inducers, namely saracatinib and bazedoxifene, as potential drugs to repurpose for LGMD R2 patients carrying the DYSFL1341P mutation. Functional characterization of these drugs revealed that saracatinib and bazedoxifene had a protective effect on the plasma membrane in osmotic shock assay. While saracatinib restores functionality in membrane resealing through a specific rescue of L1341P dysferlin from degradation, bazedoxifene demonstrates an additional protective effect on dysferlin KO mice muscle fibers. Finally, further investigations into the molecular mechanism of action of bazedoxifene revealed an induction of autophagy flux, which may underlie the molecules effect on the survival of LGMD R2 myofibers.

Matching journals

The top 10 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.