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Article

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease

1
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Gatchina 188300, Russia
2
Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia
3
Institute of the Human Brain of RAS, Saint-Petersburg 197376, Russia
4
Research Center for Medical Genetics, Moscow 115522, Russia
*
Author to whom correspondence should be addressed.
Academic Editors: Suzanne Lesage and Joanne Trinh
Received: 9 September 2021 / Revised: 27 September 2021 / Accepted: 28 September 2021 / Published: 29 September 2021
(This article belongs to the Special Issue Parkinson's Disease: Genetics and Pathogenesis)
Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world. N370S and L444P are the two most common mutations in the GBA gene. PD carriers of severe mutation L444P in the GBA gene is characterized by the earlier age at onset compared to N370S. Not every carrier of GBA mutations develop PD during one’s lifetime. In the current study we aimed to find common gene expression signatures in PD associated with mutation in the GBA gene (GBA-PD) using RNA-seq. We compared transcriptome of monocyte-derived macrophages of 5 patients with GBA-PD (4 L444P/N, 1 N370S/N) and 4 asymptomatic GBA mutation carriers (GBA-carriers) (3 L444P/N, 1 N370S/N) and 4 controls. We also conducted comparative transcriptome analysis for L444P/N only GBA-PD patients and GBA-carriers. Revealed deregulated genes in GBA-PD independently of GBA mutations (L444P or N370S) were involved in immune response, neuronal function. We found upregulated pathway associated with zinc metabolism in L444P/N GBA-PD patients. The potential important role of DUSP1 in the pathogenesis of GBA-PD was suggested. View Full-Text
Keywords: Parkinson’s disease; GBA; macrophages; RNA-seq; transcriptome Parkinson’s disease; GBA; macrophages; RNA-seq; transcriptome
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MDPI and ACS Style

Usenko, T.; Bezrukova, A.; Basharova, K.; Panteleeva, A.; Nikolaev, M.; Kopytova, A.; Miliukhina, I.; Emelyanov, A.; Zakharova, E.; Pchelina, S. Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease. Genes 2021, 12, 1545. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101545

AMA Style

Usenko T, Bezrukova A, Basharova K, Panteleeva A, Nikolaev M, Kopytova A, Miliukhina I, Emelyanov A, Zakharova E, Pchelina S. Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease. Genes. 2021; 12(10):1545. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101545

Chicago/Turabian Style

Usenko, Tatiana, Anastasia Bezrukova, Katerina Basharova, Alexandra Panteleeva, Mikhail Nikolaev, Alena Kopytova, Irina Miliukhina, Anton Emelyanov, Ekaterina Zakharova, and Sofya Pchelina. 2021. "Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease" Genes 12, no. 10: 1545. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101545

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