Irene López Fabuel, Emilio Fernández Sánchez, Rubén Quintana Cabrera and Carlos Vicente Gutiérrez (University of Salamanca); Marina García Macía (Newcastle University); Daniel Jiménez Blasco (CIBERFES).
Among the latter is Batten disease, a neurodegenerative disorder that strikes during childhood and adolescence. This project will explore therapeutic approaches for this so far untreatable condition.
Batten disease is characterized by an aberrant accumulation of fat in the neurons that ends with their destruction. Researchers believe that the fault lies in the molecular mechanism charged with removing and recycling intracellular waste material, in this case fats. Testing this hypothesis is one of the objectives of the project. Specifically, the authors postulate that neuronal death in the central nervous system due to abnormal fat accumulation also alters fat metabolism in organs like the liver.
To study whether defects in fat metabolism in hypothalamic neurons affect whole body metabolism, the team will work with mice that have been genetically modified to induce symptoms resembling those of Batten disease. They hope this may help identify a treatment for this currently incurable condition.