Thursday 14 May 2015

Plasma Oligomeric Alpha-Synuclein Is Associated With Glucocerebrosidase Activity in Gaucher Disease

There is some mounting evidence for an association between these two important proteins that play a role in PD pathogenesis...

Mov Disord. 2015 May 12. doi: 10.1002/mds.26200. [Epub ahead of print]
Nuzhnyi E, Emelyanov A, Boukina T, Usenko T, Yakimovskii A, Zakharova E, Pchelina S.

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 (R2  = 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.

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