Identification of apoptosis-related genes as potential biomarkers and therapeutic targets in cystic fibrosis patients progressing to pulmonary nontuberculous mycobacterial disease

Pulmonary Non-tuberculous mycobacteria (pNTM) disease, often associated with underlying lung diseases, refers to a class of diseases in which humans are infected with Non-tuberculous mycobacteria (NTM), leading to pathological changes in the lungs. It is believed that the regulation of apoptosis by NTM contributes to their persistent infection. However, the roles of apoptosis - related genes in pNTM disease remain unclear. Here, we downloaded the expression profile of GSE205161 from the Gene Expression Omnibus (GEO) database to identify differentially expressed genes (DEGs) between pNTM patients and control samples. We then intersected the DEGs with apoptosis - related genes (ARGs). As a result, we obtained fifteen apoptosis - related differentially expressed genes (ARDEGs). Through GO and KEGG pathway analyses, we found that fifteen ARDEGs were primarily enriched in the TNF - mediated signaling pathway, cytokine receptor binding, regulation of JNK cascade, and TNF receptor superfamily binding. Additionally, we identified four key genes (ACTA2, CD180, PIK3R1, TPM4) as biomarkers with moderate potential for diagnosing pNTM disease using the Receiver Operating Characteristic (ROC) curve analysis. By analyzing the RNA regulation networks, we found that arsenic trioxide and doxorubicin could potentially target CASP9, PIK3R1, ACTA2, and BECN1 for treating pNTM disease. The present study provides a basis for investigating biomarkers and potential therapeutic targets for pNTM disease in the future.