Transcriptomic profiling of peripheral blood mononuclear cells from patients with Parkinson's disease and control subjects
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE49126 | GEO | 2019/09/25
REPOSITORIES: GEO
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Project description:To get insight into systemic molecular events associated with Parkinson’s disease (PD), an age-related neurodegenerative disorder, we compared gene expression patterns of peripheral blood mononuclear cells (PBMC) derived from elderly healthy controls and from PD patients.
2012-03-20 | GSE22491 | GEO
Project description:To get insight into systemic molecular events associated with ParkinsonM-bM-^@M-^Ys disease (PD), an age-related neurodegenerative disorder, we compared gene expression patterns of peripheral blood mononuclear cells (PBMC) derived from elderly healthy controls and from PD patients. Transcriptomic profiling of patients with ParkinsonM-bM-^@M-^Ys disease and control subjects. RNA were extracted from peripheral mononuclear blood cells and were hybridized on 4x44k Agilent expression microarrays.
2012-03-20 | E-GEOD-22491 | biostudies-arrayexpress
Project description:Autophagy is a highly conserved degradation pathway whereby not only cytosolic components but also aberrant proteins are sequestered within double-membraned vesicles. Parkinson's disease (PD) is pathologically characterized by accumulation of phosphorylated α-synuclein in the neuronal cytoplasm and its accumulation occurs in the peripheral autonomic nervous system as well as the central nervous system. In the brains of patients with PD, abnormal autophagy is known to occur and be involved with neurodegeneration. To investigate abnormal autophagy in peripheral blood mononuclear cells (PBMC) in the patients with PD, we performed whole transcriptome analysis of PBMC obtained from 9 normal controls and 10 patients with PD.
2017-07-27 | GSE100054 | GEO
Project description:Introduction: Parkinson's disease (PD) is characterized by bradykinesia, tremor, and rigidity; in addition, postural instability sets in as the disease progresses. Non-motor symptoms of the disease include cognitive, behavioral, and neuropsychiatric changes, sensory and sleep disturbances that may precede the motor symptoms of the disease itself. The peculiar pathological features of PD are decreased dopaminergic neurons and dopamine levels in the substantia nigra pars compacta and pontine locus ceruleus. The study of the transcriptome plays a major role in the identification of genes and gene regulatory mechanisms in multifactorial neurodegenerative diseases such as Parkinson's disease itself. Therefore, we proposed to study the transcriptome directly in the midbrain containing the "Substantia nigra.The study was performed in 8 subjects with PD and 6 normal control subjects, using next-generation sequencing (NGS) technologies. Results: With the use of an ad hoc bioinformatics pipeline, gene expression profiles in the different PD subjects were obtained and compared to those of controls. In detail, the results obtained from the data analysis indicated 92 differentially expressed genes (FDR-adjusted p value ≤0.05 and fold-change less than -1.5 or greater than +1.5) of which 33 genes were up-regulated while 59 were down-regulated. Conclusions: Functional analysis of the differentially expressed genes revealed several genes involved in different canonical pathways indicating their likely significant role in Parkinson's disease.
2024-01-03 | E-MTAB-13295 | biostudies-arrayexpress
Project description:Parkinson's disease (PD) is a progressive neurodegenerative disorder, which is characterised by degeneration of distinct neuronal populations, including dopaminergic neurons of the substantia nigra. Here, we use a metabolomics profiling approach to identify changes to lipids in PD observed in sebum, a non-invasively available biofluid. We used liquid chromatography-mass spectrometry (LC-MS) to analyse 274 samples from participants (80 drug naïve PD, 138 medicated PD and 56 well matched control subjects) and detected metabolites that could predict PD phenotype. Pathway enrichment analysis shows alterations in lipid metabolism related to the carnitine shuttle, sphingolipid metabolism, arachidonic acid metabolism and fatty acid biosynthesis. This study shows sebum can be used to identify potential biomarkers for PD.
2020-12-21 | MTBLS2266 | MetaboLights
Project description:Parkinson's disease (PD) is a common human neurodegenerative movement disorder. Studies of the genetic forms of PD have helped to reveal disease mechanisms. Functional interactions between some Parkinson's disease (PD) genes, like PINK1 and parkin, have been identified, but whether other ones interact remains elusive. Here we report an unexpected genetic interaction between two PD genes, VPS35 and EIF4G1. We provide evidence that EIF4G1 upregulation causes defects associated with protein misfolding. Expression of a sortilin protein rescues these defects, downstream of VPS35, suggesting a potential role for sortilins in PD. We also show interactions between VPS35, EIF4G1 and alpha-synuclein, a protein with a key role in the pathogenesis of both sporadic and familial PD. We extend our findings from yeast to an animal model and show these interactions are conserved in neurons. We also connect VPS35 impairments to neurodegeneration in alpha-synuclein transgenic mice. Our studies reveal unexpected genetic and functional interactions between two seemingly unrelated PD genes and functionally connect them to alpha-synuclein pathobiology in yeast, worms, and mouse. Finally, we provide a resource of candidate PD genes for future genetic and functional interrogation. Ribosome profiling (RiboSeq) of wild type and VPS35 deletion yeast strains, with or without overexpression of the TIF4631 initiation factor
2014-12-19 | E-GEOD-64304 | biostudies-arrayexpress
Project description:Transcriptome profiling was conducted on 2 replicate samples of total peripheral blood mononuclear cells (PBMC) and isolated PBMC subsets.
2020-04-14 | GSE101489 | GEO
Project description:Introduction: Parkinson's disease (PD), typically developing between the ages of 55 and 65 years, is a common neurodegenerative disorder caused by a progressive loss of dopaminergic neurons due to the accumulation of α-synuclein in the substantia nigra. Mitochondria are known to play a key role in cell respiratory function and bioenergetic. Indeed, mitochondrial dysfunction causes an insufficient energy production required to satisfy the needs of several organs, especially the nervous system. Material and methods: The present study explored the mRNA expression of mitochondrial DNA (mtDNA) encoded respiratory chain (RC) subunits in PD patients by using the next generation sequencing analysis (NGS) and the quantitative real-time PCR (qRT-PCR) assay for the confirmation of the NGS results. Results: All tested mitochondrial RC subunits was significantly over-expressed in subjects with PD compared to normal controls . In qRT-PCR the mean expression of all mitochondrial subunits had an expression level of at least 7 times compared to controls. Conclusion: The over-expression of mitochondrial subunits in PD subjects might be secondary to a degeneration-related alteration of the mitochondrial structure or dynamics or to the occurrence of a compensatory mechanism. The study of specific mRNA by peripheral blood mononuclear cells (PBMCs) may provide a better diagnostic frame to early detect PD cases.
2022-01-01 | E-MTAB-9950 | biostudies-arrayexpress
Project description:Multiple sclerosis (MS) is a neurodegenerative disease with a presumed autoimmune component. Expression profiling in immune cells can therefore be used in order to identify genes and pathways involved in MS pathogenesis. We conducted a genome-wide expression study in peripheral blood mononuclear cells (PBMC) from 12 MS patients and 15 controls in order to identify differentially expressed genes and pathways in MS.
2011-07-01 | GSE21942 | GEO
Project description:Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide and the first involving motor symptoms. Deep brain stimulation (DBS) neurosurgery treatment through electrodes implanted to the subthalamic nucleus (STN) improves dramatically the debilitating motor symptoms of the disease due to yet unknown molecular mechanisms. Affymetrix human junction prototype microarrays (HJAY) of blood leukocytes mRNA from PD patients prior to, and following DBS neurosurgery treatment on electrical stimulation were compared to these of age- and gender-matched healthy control volunteers. About 95% of all human genes undergo alternative splicing, and alternative splicing is involved in human diseases and specifically in neurodegenerative diseases. Thus, the goal of this study was to detect alternatively spliced genes in PD patients prior to, and following DBS and to predict the effect of these on the functional level of change at the transcript level (such as exon inclusion, intron retention and nonsense-mediated decay events). Understanding the role of alternative splicing in neurodegenerative diseases will open new avenues to future novel approaches for early detection and neuroprotective treatment enabled by the development of future genetic therapeutics targeted at specific modified splice variants. A total of 11 blood leukocytes mRNA samples were analyzed: four from Parkinson's Disease (PD) patients pre-DBS treatment, three from PD patients tested again post-DBS (while being on electrical stimulation), three from age- and gender-matching healthy control (HC) volunteers, and one PD sample pre-DBS sample was re-stained and rescanned .
2015-05-22 | E-GEOD-37591 | biostudies-arrayexpress