Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia

Hayashi G, Cortopassi G. PLoS ONE 11(4): e0153574. doi:10.1371/journal.pone.0153574

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This work demonstrates that the mRNA abundance of the oxidative stress response genes NCF2 and PDLIM1 are potential biomarkers for FA. Additionally, because NCF2 and PDLIM1 respond dose-dependently to frataxin level, they supplement and confirm the antioxidant effects of therapies that raise frataxin, increasing the number of Friedreich's relevant biomarkers to three in the lymphoblast context: frataxin, NCF2, and PDLIM1. Lastly, because PDLIM1/CLP36 has recently been shown to be responsive to Nrf2 status/oxidative stress in cardiomyocytes, it could become a valuable marker of drug effect in cardiomyocytes.

 Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia