Gene expression profiling of thymus samples from myasthenia gravis patients.
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PROVIDER: PRJNA407813 | ENA |
REPOSITORIES: ENA
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Project description:Identification of deregulated genes in the thymus of myasthenia gravis patients' subgroup.
2006-11-09 | E-MEXP-518 | biostudies-arrayexpress
Project description:Autoimmune myasthenia gravis (MG) is characterized by thymic abnormalities such as hyperplasia and thymoma. Thymus plays an important role in self-tolerance and is involved in initiation and progression of the disease. A large proportion of MG patient show the presence of ectopic germinal centers (GC) in thymus that are absent in normal individuals. However, the exact mechanism how this change in thymus morphology is triggered and if this is related to pathophysiology of the disease remains unknown. In this study we have compared the mRNA profile of thymus samples obtained during a clinical trial (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy. ClinicalTrials.gov Identifier: NCT00294658). We have compared the miRNA profile of thymus samples that have distinct germinal centers with those that lack them using Affymetrix miRNA array 4.0 to identify the differentially expressed genes with in the two groups.
2017-09-14 | GSE103812 | GEO
Project description:Autoimmune myasthenia gravis (MG) is characterized by thymic abnormalities such as hyperplasia and thymoma. Thymus plays an important role in self-tolerance and is involved in initiation and progression of the disease. A large proportion of MG patient show the presence of ectopic germinal centers (GC) in thymus that are absent in normal individuals. However, the exact mechanism how this change in thymus morphology is triggered and if this is related to pathophysiology of the disease remains unknown. In this study we have compared the mRNA profile of thymus samples obtained during a clinical trial (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy. ClinicalTrials.gov Identifier: NCT00294658). We have compared the mRNA profile of thymus samples that have distinct germinal centers with those that lack them using Affymetrix human transcriptome array 2.0 to identify the differentially expressed genes with in the two groups.
2017-09-19 | GSE103974 | GEO
Project description:To investigate the abnormal expression amount of microRNAs in T cells of patients with myasthenia gravis
2018-03-16 | GSE111870 | GEO
Project description:Myasthenia gravis (MG) is an autoimmune disease affecting the neuromuscular junction, whose clinical hallmark is muscle weakness and early fatigability. Azathioprine (AZA) is commonly used in Myasthenia Gravis therapy. AZA is a purine antagonist, which inhibits the cell cycle in the resting and DNA synthesis phases. It is usually used as an immunosuppressant to block T- and B-cell proliferation. AZA, bioconverted to 6-mercaptopurine by glutathione S-transferase (GST), can be metabolized either through the hypoxanthine phosphoribosyl transferase pathway to active 6-thioguanine nucleotides (6-TGN) or through the thiopurine S-methyltransferase (TPMT) pathway to inactive methyl-thiopurine metabolites. The incorporation of active 6-TGNs into DNA, causing breaks in DNA strands resulting in interference with RNA production and thereby protein synthesis, is responsible for the drug effect. The response to AZA is determined by which metabolic pathway is being favored. While balanced use of both HPRT and TPMT pathways results in responsiveness to AZA, hyperactivity of TPMT skews the balance towards the TPMT pathway and results in unresponsiveness to AZA with no pharmacological effect. In contrast, low TPMT activity skews the balance towards the HPRT pathway, resulting in increasing side-effects due to the accumulation of 6-TGNs. Current treatments for MG therapy are often inadequate because less than 40% of patients achieve complete remission with available drugs. This reflects the lack of drugs acting on target sites for which there is strong evidence of pathogenicity and the inability to identify responder patients. No criteria for responsiveness are available, exposing patients to unpredictable failures and unpredictable side effects. These individuals are at particular risk for adverse drug reaction (ADRs) or therapeutic failure. Genetic profiling with the Affymetrix drug metabolizing enzymes and transports genotyping array offers the ability to determine 1,931 variants and 225 genes involved in drug metabolism and disposition. Accordingly, the study of well-known drug-metabolizing genes can be involved in the specific metabolic pathway of a drug, which is more likely to define genotype-phenotype association and thereby genotype profiles relevant to drug response that can be applied as predictive biomarkers for pharmacological treatment.
2016-05-01 | E-MTAB-4489 | biostudies-arrayexpress
Project description:Myasthenia gravis (MG) is an autoimmune disease with an incompletely understood mechanism and limited treatment options. MG is a systemic autoimmune disease, complex abnormal humoral and cellular immune responses play a crucial role in the pathogenesis of MG. The pathological changes involve not just individual immune tissues, but also complex interactions among multiple organs and systems. However, the majority of previous studies focused on abnormalities in peripheral blood and the thymus. With the development of high-throughput technology, several studies have unbiasedly revealed abnormal numbers and function of immune cells by single-cell RNA sequencing and, cytometry-of-time-flight/mass cytometry (CyTOF), indicated pivotal role of aberrant changes in innate immune cells, including monocytes and natural killer cell (NK), in the pathogenesis of MG. Nevertheless, these innate immune cells reside not only in blood, but also widely within the central and peripheral immune organ including bone marrow, thymus, spleen, and lymph nodes. But it is particularly difficult to collect these samples from patients and healthy control, hindering the comprehensive understanding of pathological mechanisms of MG. In the present study, single-cell sequencing technology was used to construct a cross-tissue single-cell atlas including bone marrow, thymus, spleen, lymph and whole blood in experimental autoimmune myasthenia gravis (EAMG) model
2026-04-01 | GSE306764 | GEO
Project description:The project was focused on the serum proteomic profiling of the neuromuscular autoimmune disease, Myasthenia gravis (MG). The project aimed to identify candidate serum proteins to understand the disease better. To eliminate any typical autoimmune response Rheumatoid arthritis (RA) was included as a reference disease to the sample group.
2024-01-26 | PXD019633 | Pride
Project description:Neonatal Fc receptor (FcRn) blockade with efgartigimod is an effective therapy for myasthenia gravis (MG), yet the molecular changes beyond IgG clearance remain incompletely understood. In this study, paired peripheral blood samples collected at baseline and week 4 after efgartigimod treatment underwent bulk RNA-seq profiling to investigate transcriptomic remodeling associated with FcRn inhibition in MG. Raw sequencing data have been deposited in the National Genomics Data Center (NGDC) under accession subHRA027638.
2026-04-08 | GSE327102 | GEO
Project description:Myasthenia gravis (MG) is a chronic antibody-mediated autoimmune disease disrupting neuromuscular synaptic transmission. Antibodies (Abs) against the acetylcholine receptor (AChR) are detected in approximately 85% of patients. Here, we aimed to study the serum proteome of MG and to identify novel biomarkers reflecting disease activity.
2023-10-24 | PXD040786 | Pride
Project description:Myasthenia Gravis (MG) is a chronic autoimmune disorder characterized by severe muscle weakness. However, the seronegative MG patient subgroup, which accounts for about 15% of MG patients, remains challenging diagnosis, and the immunopathology is understudied. Therefore, we performed single-cell RNA-sequencing analysis by peripheral blood and plasma proteome analysis for the seronegative MG patients. Numerical abnormalities were observed in multiple immune cells including B-cells compared to healthy controls (HC) and correlated with disease activities. Additionally, plasma protein of CD22 that was reported to be expressed in the lineage of B-cell maturation, such as mature B-cells and memory B-cells was decreased compared to HC, and had correlation with disease severity, B-cells frequency, and the RNA expression level. These results suggest that the seronegative MG patients have immune disorders centered on B-cells. This is the first large-scale and innovative study to elucidate the immunopathology of the seronegative MG patients.
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