Article ID Journal Published Year Pages File Type
4344252 Neuroscience Letters 2012 5 Pages PDF
Abstract

Gaucher disease (GD) patients and carriers of glucocerebrosidase mutations are at an increased risk for Parkinson's disease (PD). The presynaptic protein alpha-synuclein (AS) is linked to PD. In the current work we examined biochemical properties of AS in GD patients. We generated membrane-enriched lysates from erythrocytes of 27 patients with GD and 32 age- and sex-matched controls and performed Western immunoblotting with antibodies against AS. Levels of monomeric AS did not differ between GD patients and controls and did not change as a function of age. However, the ratio of dimeric to monomeric AS was significantly increased in GD patients, and showed a significant positive correlation with age. Therefore, two major risk factors for PD, aging and GD status, are associated with an increased AS dimer to monomer ratio in erythrocytes. This ratio needs to be validated in further studies as a potential biomarker for PD risk.

► Alpha-synuclein (AS) dimers can be detected in human erythrocytes. ► No difference in AS monomer between Gaucher disease (GD) patients and controls. ► Increase of dimer to monomer ratio of AS in GD patients vs. controls. ► No change of AS monomer with aging. ► Increase of AS dimer to monomer ratio with aging.

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