Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia . Heather L. Plasterer, Eric C. Deutsch, Matthew Belmonte, Elizabeth Egan, David R. Lynch, James R. Rusche; PLoS ONE 8(5): e63958. doi:10.1371/journal.pone.0063958

Conclusions/Significance

Our data support the use of frataxin as a biomarker of drug effect. Frataxin levels are stable over time and as such a 1.5 to 2-fold change would be detectable over normal biological fluctuations. Additionally, our data support buccal cells or PBMCs as sources for measuring frataxin protein in therapeutic trials.