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FARAFARA Cure FA

Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia

Insufficient frataxin levels in FA patients lead to iron and copper deposits in the brain and cardiac cells. 25 confirmed FA patients were included in this study. The total iron and total copper concentrations were measured in blood plasma both in patients and age, sex matched healthy controls. The iron levels in plasma of FRDA patients were found to be significantly decreased as compared to healthy controls. A similar trend was observed in case of plasma copper levels in FRDA patient as compared to controls. Present results clearly show abnormal distribution of extra-cellular iron in FRDA patients, which is in accordance with the well established fact of intracellular iron overload, which is a key feature of the pathogenesis of this disease. This can be of importance in understanding the pathophysiology of the disease in association with frataxin/iron. It appears that intracellular sequestration of trace metals in FRDA patients (due to low frataxin) results in their sub-optimal levels in blood plasma (extra-cellular) an observation that can find prognostic application in clinical trials.

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Jane Larkindale

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