NEURONAL MODEL OF FRIEDREICH ATAXIA DISPLAYS DECREASED SOD ACTIVITIES

VERÓNICA IRAZUSTA; ELIA OBIS; JOAQUIM ROS; JORDI TAMARIT

Zaragosa, España

Workshop; II Workshop On Reactive Oxygen Species And Systems; 2009

Rosasnet, Reactive Oxygen Species and Systems

Friedreich's ataxia (FRDA) is a human disease caused by decreased expression of the mitochondrial protein frataxin due to the presence of large expansions of GAA repeats in the first intron of the nuclear gene coding for the protein. FRDA patients suffer from multiple symptoms, including progressive gait and limb ataxia, hypertrophic cardiomyopathy, and sometimes diabetes mellitus. Our previous results performed with Saccharomyces cerevisiae, indicated that Yfh1-deficient yeast cells (Dyfh1) expressed increased amounts of proteins involved in the defense against oxidative stress, but, paradoxically, decreased activities of mitochondrial Mn-superoxide dismutase (Mn-SOD) and cytosolic CuZn-SOD (Irazusta et al., 2006). In the present work we developed a neuronal human model of FRDA using shRNA technology and analyzed the amount and activity of SOD enzymes