Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations
| Autor: | Galina Baydakova, A E Kopytova, Irina Miliukhina, Ekatrina Fedotova, Ekaterina Yur'evna Zakharova, A. F. Yakimovskii, Mikhael Nikolaev, Sergey N. Illarioshkin, S.N. Pchelina, A. Emelyanov, A A Timofeeva, Konstantin Senkevich, O. Berkovich |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Mutation medicine.medical_specialty Parkinson's disease business.industry Disease medicine.disease_cause medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Neurology Internal medicine medicine Lysosphingolipids In patient Substrate reduction therapy Neurology (clinical) Dried blood business Glucocerebrosidase 030217 neurology & neurosurgery |
| Zdroj: | Movement Disorders. 33:1325-1330 |
| ISSN: | 0885-3185 |
| DOI: | 10.1002/mds.27393 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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