Dr Núria Casals, head of the Pharmacology Department at UIC Barcelona, has led a study into the relationship between CPT1c, a protein on which her research group is focussed, and hereditary spastic paraplegia, a rare disease based on the progressive degeneration of the corticospinal neurons. This condition, that affects some five thousand people in Spain, causes muscular weakness, rigidity and finally paralysis.
Dr Casals' team has demonstrated the importance of CPT1c in transporting endosomes through the axon, a conduit that unites the nucleus of the neurons with the spinal column. Its function in lipid metabolism is already known but now, additionally, it has been discovered that CPT1c acts as a sensor for the state of energy in the neurons and regulates the transit of endosomes, which contain nutrients inside them that the neuron needs to survive. In some patients this protein mutates and provokes hereditary spastic paraplegia. However, CPT1c mutation is not the only cause of the disease in question, in that around fifty genes have been identified that could also provoke it.
The research team presented these results at the International Congress “Organelle Contact Sites”, organised by the EMBO (European Molecular Biology Organization) in Sardinia. They were also presented at the National Congress of the Spanish Society of Physiological Sciences in Zaragoza.
