Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study

The objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in that reduced expression of the neurogenesi...

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Main Authors: A. I. Bezrukova, K. S. Basharova, I. V. Miliukhina, A. A. Timofeeva, K. A. Senkevich, S. N. Pchelina, T. S. Usenko
Format: Article
Language:Russian
Published: Academician I.P. Pavlov First St. Petersburg State Medical University 2022-07-01
Series:Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова
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Online Access:https://www.sci-notes.ru/jour/article/view/871
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author A. I. Bezrukova
K. S. Basharova
I. V. Miliukhina
A. A. Timofeeva
K. A. Senkevich
S. N. Pchelina
T. S. Usenko
author_facet A. I. Bezrukova
K. S. Basharova
I. V. Miliukhina
A. A. Timofeeva
K. A. Senkevich
S. N. Pchelina
T. S. Usenko
author_sort A. I. Bezrukova
collection DOAJ
description The objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in that reduced expression of the neurogenesis genes EGR1 (early growth response protein 1), NR4A2 (nuclear receptor 4A2), JUNB (transcription factor jun-B) in patients with GBA-PD.Methods and materials. The study included 14 patients with GBA-PD, 15 GBA-carriers, 30 patients with Parkinson's disease (PD) and 44 persons of the control group. The assessment of relative mRNA level of neurogenesis genes EGR1, NR4A2, JUNB in peripheral blood mononuclear cells were carried out by real-time quantitative polymerase chain reaction (PCR) using TaqMan fluorescent probes or EvaGreen fluorescent DNA dye.Results. Relative mRNA level of the JUNB gene in peripheral blood mononuclears was decreased in the group of patients with GBA-PD compared to controls (p=0.034). We found out that the relative mRNA level of the NR4A2 gene in peripheral blood mononuclears was increased in the group of patients with GBA-carriers compared to GBA-PD, patients with PD and controls (p=0.0029, p=0.00045, p=0.0024 respectively). There were no statistically significant differences in the mRNA level of the EGR1 gene between all the study groups (p&gt;0.05).Conclusion. GBA-PD is characterized by reduced expression of the JUNB gene compared to control and of the NR4A2 gene compared to GBA-carriers.
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series Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова
spelling doaj.art-f09de606945041a1912502103af8acf22023-09-03T09:26:34ZrusAcademician I.P. Pavlov First St. Petersburg State Medical UniversityУчёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова1607-41812022-07-01291374510.24884/1607-4181-2022-29-1-37-45592Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome studyA. I. Bezrukova0K. S. Basharova1I. V. Miliukhina2A. A. Timofeeva3K. A. Senkevich4S. N. Pchelina5T. S. Usenko6Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»Pavlov University; N.P. Bekhtereva Institute of the Human BrainPavlov UniversityPavlov UniversityPetersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»; Pavlov UniversityPetersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»; Pavlov UniversityThe objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in that reduced expression of the neurogenesis genes EGR1 (early growth response protein 1), NR4A2 (nuclear receptor 4A2), JUNB (transcription factor jun-B) in patients with GBA-PD.Methods and materials. The study included 14 patients with GBA-PD, 15 GBA-carriers, 30 patients with Parkinson's disease (PD) and 44 persons of the control group. The assessment of relative mRNA level of neurogenesis genes EGR1, NR4A2, JUNB in peripheral blood mononuclear cells were carried out by real-time quantitative polymerase chain reaction (PCR) using TaqMan fluorescent probes or EvaGreen fluorescent DNA dye.Results. Relative mRNA level of the JUNB gene in peripheral blood mononuclears was decreased in the group of patients with GBA-PD compared to controls (p=0.034). We found out that the relative mRNA level of the NR4A2 gene in peripheral blood mononuclears was increased in the group of patients with GBA-carriers compared to GBA-PD, patients with PD and controls (p=0.0029, p=0.00045, p=0.0024 respectively). There were no statistically significant differences in the mRNA level of the EGR1 gene between all the study groups (p&gt;0.05).Conclusion. GBA-PD is characterized by reduced expression of the JUNB gene compared to control and of the NR4A2 gene compared to GBA-carriers.https://www.sci-notes.ru/jour/article/view/871parkinson's diseasegene expressionneurogenesisperipheral blood mononuclear cells
spellingShingle A. I. Bezrukova
K. S. Basharova
I. V. Miliukhina
A. A. Timofeeva
K. A. Senkevich
S. N. Pchelina
T. S. Usenko
Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова
parkinson's disease
gene expression
neurogenesis
peripheral blood mononuclear cells
title Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
title_full Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
title_fullStr Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
title_full_unstemmed Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
title_short Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the <i>GBA</i> gene: validation of the data analysis of transcriptome study
title_sort reduced expression of neurogenesis genes as biomarkers of parkinson s disease associated with mutations in the i gba i gene validation of the data analysis of transcriptome study
topic parkinson's disease
gene expression
neurogenesis
peripheral blood mononuclear cells
url https://www.sci-notes.ru/jour/article/view/871
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