Altered homeostasis of trace elements in the blood of SCA2 patients

Spinocerebellar ataxia type 2 (SCA2) is a neurological disorder characterized by cerebellar dysfunction. The possible association between metals and neurodegenerative diseases is under constant investigation, with particular focus on their involvement in oxidative stress and their potential role as biomarkers of these pathologies. Whole blood samples of SCA2 patients and of healthy individuals were subjected to multi-elemental analysis by inductively coupled plasma-mass spectrometry (ICP-MS). Reduced levels of manganese and copper were found in SCA2 patients, while zinc and vanadium concentrations were significantly higher in patients compared to controls. Copper, manganese and zinc are cofactors of many enzymes (such as superoxide dismutase, SOD) involved in the cellular antioxidant response, whereas vanadium is a transition metal able to produce reactive radicals. A marked decrease of the antioxidant response has been previously reported in SCA2 patients. We suggest that an unbalance of transitional elements in the blood may reflect altered antioxidant homeostasis in SCA2 patients and could constitute a future peripheral biomarker for this disease. In addition, we suggest a possible role of vanadium in the altered lipid metabolism of SCA2 patients.