Elucidating genetic intersections: Co-differentially expressed genes in myasthenia gravis and idiopathic inflammatory myopathies and their role in comorbid pathogenesis.

Abstract

Background: Myasthenia gravis (MG) and idiopathic inflammatory myopathies (IIM) are autoimmune disorders that can co-occur, complicating diagnosis and treatment. The molecular mechanisms underlying this comorbidity are not well understood.

Objective: This study aims to identify common differentially expressed genes (co-DEGs) between MG and IIM to elucidate shared pathogenic pathways and potential therapeutic targets.

Methods: Transcriptomic data from the Gene Expression Omnibus (GEO) were analyzed using the "limma" package in RStudio. Functional enrichment analyses were performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. A nomogram prediction model was developed, and receiver operating characteristic (ROC) analysis was used to evaluate its diagnostic potential.

Results: Four co-DEGs were identified between MG and IIM, associated with neurotransmitter transport and ion channel regulation. The nomogram model, incorporating three of these co-DEGs, showed high predictive accuracy for MG with IIM complications, with an area under the ROC curve of 0.94. Immune infiltration analysis revealed distinct patterns in MG and IIM, particularly involving gamma delta T cells and activated mast cells.

Conclusion: The study identifies key genetic intersections between MG and IIM, providing insights into their shared pathogenesis and highlighting potential diagnostic and therapeutic targets. Further experimental validation is required to confirm these findings.