Paper Title
Role of Iron in Pathogenesis of Friedreich's Ataxia

Abstract
Background: Friedreich's ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein. Insufficient frataxin levels leads to iron and copper deposits in the brain and cardiac cells. Therefore, it is proposed by assessing their cell-free levels in FRDA patients, in order to check whether the disturbed homeostasis of iron and copper is reflected in blood plasma. Methods: A total of hundred and twenty patients, suspected of FRDA were screened for the genetic analysis for (GAA) repeats in the fxn gene by PCR and those (25) patients confirmed for FRDA were recruited in the study. The total Iron and total copper concentrations were measured in blood plasma using Nitro PAPS and Dibrom PAESA method, respectively both in patients and age, sex matched healthy controls. Results: The iron levels mean ± SD (6.2 ± 3.8) in plasma of FRDA patients were found to be significantly decreased as compared to healthy controls mean ± SD (15.2 ± 4.2). A similar trend was also observed in case of plasma copper levels in FRDA patient (8.15± 4.6) as compared to controls (17.5± 3.40) Conclusion: It appears that sequestration of these trace metals inside the cells, like neurons and cardiac cells etc. in FRDA patients (due to low frataxin) results in sub-optimal levels of iron and copper in the (extra-cellular) blood plasma, an observation that can find prognostic application in clinical trials based on metal chelators as therapeutics. Keywords- Freidreich’s ataxia, FRDA, Ataxia, Neurodegeneration, plasma Iron, plasma Copper