Soriano, S., Calap-Quintana, P., Llorens, J.V., Al-Ramahi, I., Gutiérrez, L., Martínez-Sebastián, M.J., Botas, J., Moltó, M.D. (2016). Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.  PLoS ONE 11(7): e0159209.

FBrf0232926

Research paper

Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found that the levels of zinc, copper, manganese and aluminum were also increased in a Drosophila model of FRDA, and that copper and zinc chelation improve their impaired motor performance. By means of a candidate genetic screen, we identified that genes implicated in iron, zinc and copper transport and metal detoxification can restore frataxin deficiency-induced phenotypes. Taken together, these results demonstrate that the metal dysregulation in FRDA includes other metals besides iron, therefore providing a new set of potential therapeutic targets.

PMC4951068 (PMC) (EuropePMC)