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Blood Lysosphingolipids Accumulation in Patients With Parkinson's Disease With Glucocerebrosidase 1 Mutations

Blood Lysosphingolipids Accumulation in Patients With Parkinson's Disease With Glucocerebrosidase 1 Mutations

Sofya Pchelina, Galina Baydakova, Mikhael Nikolaev, Konstantin Senkevich, Anton Emelyanov, Alena Kopytova, Irina Miliukhina, Andrey Yakimovskii, Alla Timofeeva, Olga Berkovich, Ekatrina Fedotova, Sergey Illarioshkin, etc.

Mov Disord. 2018 Aug;33(8):1325-1330.

PMID: 30192031

Abstract:

Introduction:
Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients with glucocerebrosidase 1 mutations (glucocerebrosidase 1-PD). However, it is unknown whether this decrease in enzymatic activity leads to lysosphingolipid accumulations.
Methods:
The levels of hexosylsphingosines, globotriaosylsphingosine, sphingomyelin, and sphingomyelin-509 were measured in dried blood spots from glucocerebrosidase 1-PD patients (n = 23), sporadic PD patients (n = 105), Gaucher disease patients (n = 32), and controls (n = 88) by liquid chromatography-tandem mass spectrometry.
Results:
Glucocerebrosidase 1-PD patients had increased hexosylsphingosine levels when compared with sporadic PD patients (P < .001) and controls (P < .0001). Hexosylsphingosine levels were increased in glucocerebrosidase 1 mutation carriers of glucocerebrosidase 1 (L444P; N370S; n = 11, P = .001) and glucocerebrosidase 1 polymorphic variants (E326K, T369M) associated with PD (n = 12, P = .04) when compared with controls.
Conclusions:
Lysosphingolipid accumulations in PD patients who bear glucocerebrosidase 1 mutations suggest that substrate reduction therapy might be viewed as a possible strategy for glucocerebrosidase 1-PD treatment. © 2018 International Parkinson and Movement Disorder Society.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
IAR4247490	N-(NBD-Aminolauroyl)sphingomyelin			Price

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