Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.

BACKGROUND

The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha-synuclein (α-Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA activity and α-Syn accumulation in biological fluids has not been investigated.

METHODS

We analyzed plasma oligomeric α-Syn levels, leucocyte GBA activity, and plasma chitotriosidase activity in 21 patients with GD.

RESULTS

Negative correlation between plasma oligomeric α-Syn levels, and leucocyte GBA activity was observed in patients with GD (R(2)  = 0.487; P < 0.001).

CONCLUSION

The decrease in GBA activity may influence α-Syn oligomerization, explaining the high risk of PD development in GD patients. © 2015 International Parkinson and Movement Disorder Society.