Oihane Pikatza – Investigadora predoctoral en Biodonostia




Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease and the most common neuromuscular pathology, with approximately 900 new cases being diagnosed per year in Spain. A progressive loss of voluntary movements occurs upon degeneration of both upper and lower motor neurons (MNs) together with severe muscular atrophy, leading to paralysis and respiratory failure. Over the years, most research on ALS has focused on MNs and supporting cells of the central nervous system, but no effective treatment has been developed to date. Recently, however, several studies have identified pathological changes occurring prior to the onset of clinical symptoms at the neuromuscular junction (NMJ), proposing a peripheral muscular involvement in the development of ALS through NMJ ‘back-signalling’ for MN degeneration, also known as the ‘dying-back’ hypothesis. Myogenic defects found in myoblasts from ALS patients or mouse models carrying ALS-linked mutations suggest that muscle turnover is impaired in ALS. The aim of our study is to characterize the regenerative capacity of skeletal muscle stem cells (satellite cells) and NMJ restoration in ALS, in order to identify altered pathways or features that could be targeted in future therapeutics.