Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism

Mutations in the glucocerebrosidase gene (GBA) encoding the lysosomal enzyme glucocerebrosidase (GCase) cause Gaucher disease (GD) and are the most commonly known genetic risk factor for Parkinson disease (PD). Ambroxol is one of the most effective pharmacological chaperones of GCase. Fourteen GD patients, six PD patients with mutations in the GBA gene (GBA-PD), and thirty controls were enrolled. GCase activity and hexosylsphingosine (HexSph) concentration were measured in dried blood and macrophage spots using liquid chromatography coupled with tandem mass spectrometry.

Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: A.E. Kopytova, G.N. Rychkov, M.A. Nikolaev, G.V. Baydakova, A.A. Cheblokov, K.A. Senkevich, D.A. Bogdanova, O.I. Bolshakova, I.V. Miliukhina, V.A. Bezrukikh, G.N. Salogub, S.V. Sarantseva, T.C. Usenko, E.Y. Zakharova, A.K. Emelyanov, S.N. Pchelina Source Type: research