Myasthenia gravis-specific aberrant neuromuscular gene expression by medullary thymic epithelial cells in thymoma

Basic information
Cell
30,810
Sample
2

Technology
10X Genomics
Omics
scRNA-seq
Source
PBMCs

Dataset ID
35869073
Platform
Illumina NovaSeq 6000
Species
Human
Disease
MG-type thymoma
Age range
46 - 49
Update date
2022-07-22
Summary

Myasthenia gravis (MG) is a neurological disease caused by autoantibodies against neuromuscular-associated proteins. While MG frequently develops in thymoma patients, the etiologic factors for MG are not well understood. Here, by constructing a comprehensive atlas of thymoma using bulk and single-cell RNA-sequencing, we identify ectopic expression of neuromuscular molecules in MG-type thymoma. These molecules are found within a distinct subpopulation of medullary thymic epithelial cells (mTECs), which we name neuromuscular mTECs (nmTECs). MG-thymoma also exhibits microenvironments dedicated to autoantibody production, including ectopic germinal center formation, T follicular helper cell accumulation, and type 2 conventional dendritic cell migration. Cell–cell interaction analysis also predicts the interaction between nmTECs and T/B cells via CXCL12-CXCR4. The enrichment of nmTECs presenting neuromuscular molecules within MG-thymoma is further confirmed immunohistochemically and by cellular composition estimation from the MG-thymoma transcriptome. Altogether, this study suggests that nmTECs have a significant function in MG pathogenesis via ectopic expression of neuromuscular molecules.

Overall design

To be supplemented.

Contributors

To be supplemented.

Contact

To be supplemented.

snRNA-Seq
Sample nameSample titleDiseaseGenderAgeSourceTreatmentTechnologyPlatformOmicsSample IDDataset IDAction
No data available