Study of Korean Parkinson's disease
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001006811 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Alpha-synuclein (aSyn) is a central player in the pathogenesis of synucleinopathies due to its accumulation in typical protein aggregates in the brain. However, it is still unclear how it contributes to neurodegeneration. Type-2 diabetes mellitus is a risk factor for Parkinson’s disease (PD) and, interestingly, a common molecular alteration among these disorders is the age-associated increase in protein glycation. We hypothesized that glycation-induced neuronal dysfunction might be a contributing factor in synucleinopathies. Here, we dissected the specific impact of methylglyoxal (MGO, a glycating agent) in mice overexpressing aSyn in the brain. We found that MGO-glycation potentiates motor, cognitive, olfactory, and colonic dysfunction in aSyn transgenic (Thy1-aSyn) mice that received a single dose of MGO via intracerebroventricular (ICV) injection. aSyn accumulates in the midbrain, striatum, and prefrontal cortex, and protein glycation is increased in the cerebellum and midbrain. SWATH mass spectrometry analysis, used to quantify changes in the brain proteome, revealed that MGO mainly increase glutamatergic-associated proteins in the midbrain (NMDA, AMPA, glutaminase, VGLUT and EAAT1), but not in the prefrontal cortex, where it mainly affects the electron transport chain. Notably, the glycated proteins in the midbrain of Thy1-aSyn mice that received MGO strongly correlate with PD and dopaminergic pathways. Overall, we demonstrated that MGO-induced glycation accelerates PD-like sensorimotor and cognitive alterations and suggest that the increase of glutamatergic signaling may underly these events. Our study sheds new light into the enhanced vulnerability of the midbrain in PD-related synaptic dysfunction and suggests that glycation suppressors and anti-glutamatergic drugs may hold promise as disease-modifying therapies for synucleinopathies.
2022-05-20 | PXD032832 | Pride
Project description:Summary statistics
Korean PD (n=410) vs. Korean Healthy Control (n=200)
| EGAD00001009775 | EGA
Project description:More than 200 asthma-associated genetic variants have been identified in genome-wide association studies (GWASs). Expression quantitative trait loci (eQTL) data resources can help identify causal genes of the GWAS signals, but it can be difficult to find an eQTL that reflects the disease state because most eQTL data are obtained from normal healthy subjects. We performed a blood eQTL analysis using transcriptomic and genotypic data from 436 Korean asthma patients. To identify asthma-related genes, we carried out colocalization and Summary-based Mendelian Randomization (SMR) analysis using the results of asthma GWASs and eQTL data. In addition, we compared the results of disease eQTL data and asthma-related genes with two normal blood eQTL data from Genotype-Tissue Expression (GTEx) project and a Japanese study. We identified 342,054 cis-eQTL and 2,931 eGenes from asthmatic eQTL analysis. We compared the disease eQTL results with GTEx and a Japanese study and found that 63.2 % of the 2,931 eGenes overlapped with the GTEx eGenes and 38.5 % with the Japanese eGenes. Following the integrated analysis of the asthmatic eQTL data with asthma GWASs, using colocalization and SMR methods, we identified 13 asthma-related genes specific to the Korean asthmatic eQTL data. We provided Korean asthmatic cis-eQTL data and identified asthma-related genes by integrating them with GWAS data. In addition, we suggested these asthma-related genes as therapeutic targets for asthma. We envisage that our findings will contribute to understanding the etiological mechanisms of asthma and provide novel therapeutic targets.
2023-03-08 | GSE226825 | GEO
Project description:A database of genes showing differences in expression in synovium tissues and normal synovium tissues of Korean patients with advanced osteoarthritis was established.
2024-04-30 | GSE254682 | GEO
Project description:The fact that Parkinsons disease (PD) can arise from numerous genetic mutations suggests a unifying molecular pathology underlying the various genetic backgrounds. In order to address this hypothesis, an integrated approach utilizing in vitro disease modeling and comprehensive transcriptome profiling was taken to advance our understanding of PD progression and the concordant downstream signaling pathways across divergent genetic predispositions. To model PD in vitro, neurons harboring disease-causing mutations were generated from patient-specific, induced pluripotent stem cells (iPSCs) and found to recapitulate several disease-related phenotypes. Signs of degeneration in PD midbrain dopaminergic (mDA) neurons were observed, reflecting the cardinal feature of PD. In addition, novel gene expression signatures were revealed for PD mDA neurons, providing molecular insights to disease phenotype observed in vitro, including oxidative stress vulnerability and altered neuronal activity. Notably, detailed transcriptome profiling of PD neurons showed that elevated RBFOX1, a gene previously linked to neurodevelopmental diseases, is responsible for a pattern of alternative RNA processing associated with PD-specific phenotypes in vitro.
2016-06-07 | E-MTAB-4586 | biostudies-arrayexpress
Project description:Transcripome of longissimus dorsi muscle was compared between Korean cattle bulls and steers by using a customized bovine Combimatrix microarray containing 10,199 genes. A customized bovine Combimatrix microarray containing 10,199 genes were constructed, and transcripome of longissimus dorsi muscle was compared between Korean cattle bulls (3 bulls) and steers (3 high-marbled and 3 low-marbled steers) by using the microarray hybridzation.
2013-06-30 | E-GEOD-35085 | biostudies-arrayexpress
Project description:Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. The purpose of this study was to analyze the profile of the tear proteome of patients with idiopathic PD (iPD), carriers of the E46K-SNCA mutation and healthy subjects (CT) and to identify biomarkers for the early diagnosis of PD. An observational, prospective and case-control pilot study was carried out in 24 patients with iPD, 3 carriers of the E46K-SNCA mutation and 27 CT subjects. The patients' neurological involvement was scored and their tear samples were analyzed using nano-liquid chromatography-mass spectrometry (nLC-MS/MS). These analyses led to the identification of 560 tear proteins in which some of the deregulated proteins were involved in immune response, apoptosis, collagen degradation, protein synthesis, defense and altered lysosomal function. Of these proteins, six related to neurodegenerative processes, showed a good capacity to classify patients and controls. These findings revealed that some proteins were upregulated in the tears of PD patients, mainly those involved in lysosomal function. It is worth highlighting the importance of this study in identifying tear proteins implicated in neurodegeneration and its relationship with PD patients with an aggressive disease phenotype.
2022-02-14 | PXD028811 | Pride
Project description:This study investigated the safety and efficacy of 12-mo administration of Korean Red Ginseng.
2023-03-11 | PXD032036 | Pride
Project description:Background: Parkinson's disease (PD), a neurodegenerative disease characterised by bradykinesia, rest tremor and rigidit, affects approximately 6.1 million people worldwide. Although its aetiology was attributed to accumulation of misfolded alpha-synuclein species and subsequent loss of dopaminergic neurons in the substantia nigra, recently, systemic factors contributing to its initiation and progression have gained increasing recognition. Specifically, exosomes, a kind of extracellular vesicles in the size range of ∼30 to ∼200 nm, have been highlighted as crucial mediators in orchestrating the intricate intercellular communication in PD. Among its cargos, miRNAs, with its ability to promote target mRNA degradation and inihibit translation, have been identiifed as promising biomarkers and therpaeutic targets. Nonetheless, the effect of anti-parkinsonism medication on the serum exosome miRNA profiles of PD patients remain lagrely unexplored. Objective: To examine the effects of rasagiline, a potentially neuroprotective monoamine oxidase B inihibitor, on the serum exosome miRNA profile of PD patients.
2024-07-26 | GSE269776 | GEO
Project description:Background: Parkinson's disease (PD), a neurodegenerative disease characterised by bradykinesia, rest tremor and rigidit, affects approximately 6.1 million people worldwide. Although its aetiology was attributed to accumulation of misfolded alpha-synuclein species and subsequent loss of dopaminergic neurons in the substantia nigra, recently, systemic factors contributing to its initiation and progression have gained increasing recognition. Specifically, exosomes, a kind of extracellular vesicles in the size range of ∼30 to ∼200 nm, have been highlighted as crucial mediators in orchestrating the intricate intercellular communication in PD. Among its cargos, miRNAs, with its ability to promote target mRNA degradation and inihibit translation, have been identiifed as promising biomarkers and therpaeutic targets. Nonetheless, the effect of anti-parkinsonism medication on the serum exosome miRNA profiles of PD patients remain lagrely unexplored. Objective: To examine the effects of rasagiline, a potentially neuroprotective monoamine oxidase B inihibitor, on the serum exosome miRNA profile of PD patients.
2024-07-26 | GSE269775 | GEO