DEFINING THE ROLE OF THE FRIEDREICH’S ATAXIA PROTEIN (FRATAXIN) IN CELL SURVIVAL

This project is intended to provide insight into the pathogenesis of Friedreich’s Ataxia (FA). FA is a relatively common genetic disease, affecting 1 every ~30.000 live born. It is a neurodegenerative disorder characterized by progressive motor and sensory impairment, muscular weakness, skeletal abnormalities, increased incidence of diabetes and progressive hypertrophic cardiomyopathy, a frequent cause of premature death. Symptoms usually appear around puberty, but age at onset may range from 5 to 25 years. Loss of deambulation ensues 10 to 20 years from the onset. FA is caused by the inherited deficiency of a mitochondrial protein, called frataxin. Frataxin deficiency, by so far unclear reasons, causes the premature degeneration and death of specific set of neurons and cardiac cells, thus producing the disease. Current therapy is based on anti-oxidants, yet more specific and effective therapeutic approaches are needed. We aim at the understanding of why frataxin-deficient cells die prematurely, with the purpose of providing novel information which will help design a better cure for the disease.