Evgenii Nuzhnyi1, Anton Emelyanov1,2,3, Tatyana Boukina4, Tatiana Usenko1,2, Andrey Yakimovskii1, Ekaterina Zakharova4, Sofya Pchelina1,2,3. 1. First Pavlov's State Medical University of Saint-Petersburg, St. Petersburg, Russia. 2. Petersburg Nuclear Physics Institute, St. Petersburg, Russia. 3. St. Petersburg Academic University-Nanothecnology Research and Education Centre, RAS, St. Petersburg, Russia. 4. Medical-genetics Scientific Center, Moscow, Russia.
Abstract
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.
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 GDpatients.
Authors: Salema B Abul Khair; Nisha R Dhanushkodi; Mustafa T Ardah; Wenfeng Chen; Yufeng Yang; M Emdadul Haque Journal: Front Neurosci Date: 2018-02-16 Impact factor: 4.677
Authors: Muhammad Zain Chauhan; Ann-Katrin Valencia; Maria Carmen Piqueras; Mabel Enriquez-Algeciras; Sanjoy K Bhattacharya Journal: Invest Ophthalmol Vis Sci Date: 2019-04-01 Impact factor: 4.799