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

Deepti PathakAchal Kumar SrivastavaSheffali GulatiMoganty R. Rajeswari; Biometals (2019). https://doi.org/10.1007/s10534-019-00186-4

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 observed in case of plasma copper levels in FRDA patient (8.15 ± 4.6) as compared to controls (17.5 ± 3.40). Present results clearly prove abnormal distribution of extra-cellular iron in FRDA patients, which is in accordance with the well established fact of intracellular iron overload, which is the 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.

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