The research group Neuronal Signalling Unit of the Lleida Biomedical Research Institute (IRBLleida) and the University of Lleida (UdL) has made important progress in establishing a new strategy in the therapeutic treatment of spinal muscular atrophy, a disorder that leads to weakness and progressive muscle atrophy, and represents the most common lethal genetic disease in babies. His research demonstrates the beneficial effect of the inhibition of calpain, an enzyme that breaks down proteins into smaller units and that is implicated in neuronal injury, neurodegenerative disorders, and neuronal aging processes, in the treatment of spinal muscular atrophy. The research, which has been carried out in animal models (with mice) and also with human cells, has recently been published in the journal Cell Death & Disease.


Reference articles:

  • de la Fuente, S., Sansa, A., Hidalgo, I. et al. Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models. Cell Death Dis 11, 487 (2020). https://doi.org/10.1038/s41419-020-2688-5
  • de la Fuente S, Sansa A, Periyakaruppiah A, Garcera A, Soler RM. Calpain Inhibition Increases SMN Protein in Spinal Cord Motoneurons and Ameliorates the Spinal Muscular Atrophy Phenotype in Mice. Mol Neurobiol. 2019;56(6):4414-4427. doi:10.1007/s12035-018-1379-z
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