Friedreich's ataxia

Friedreich's ataxia is a rare neurodegenerative disease caused by a partial deficiency (between 5-30% of normal levels) of a mitochondrial protein called frataxin. Patients with this disease experience degeneration and death of nervous system cells, primarily in the dorsal root ganglia and cerebellum, which causes incoordination and mobility problems. Symptoms typically appear between the ages of five and fifteen, and it is often accompanied by heart disease and diabetes.

The project we intend to develop is based on protein replacement therapy (PRT) with the goal of effectively introducing human frataxin into the cells of animal models of the disease (FXN^I151F mice) and analyzing the reversal of altered functions due to frataxin deficiency. Frataxin will be bound to a peptide that facilitates cell entry and, consequently, will increase cellular frataxin content to levels that allow normal cellular function and, therefore, reduce (and even reverse) the clinical manifestations of the disease. This is a collaborative project between IRBLleida and the IPB Lopez Neyra (CSIC) in Granada. A summary of the project details can be found at the following link.

To develop the project, we have set a goal of securing funding of around €35,000 in this first phase, which is estimated to last approximately one year.