"We saw gene activity patterns that are associated with responses to DNA damage, and our comparisons and follow-up tests showed us that FRDA patients have far more damage than seen in healthy people," said Dr. Van Houten, who noted that everyone has some DNA damage, at various stages of repair, in their cells. "We found gene expression signatures that correlated with frataxin levels, age of disease onset and a standardized measure of patient disability."

"If further testing validates the set of genes and activity profiles as predictive biomarkers, they could be useful in assessing the current status of a patient's illness as well as the response to experimental therapies in clinical trials," he said. "Also, new drug targets might be found in the DNA repair and iron-processing pathways affected by the lack of frataxin, generating much-needed treatment breakthroughs."

The study team includes researchers from NIEHS; NINDS; Durham, N.C.-based Expression Analysis Inc.; Duke University; Universit- Pierre et Marie Curie, Paris; and H-pital Piti--Salp-tri-re, Paris.

Source: University of Pittsburgh Schools of the Health Sciences