A transcriptomic and proteomic analysis and comparison of human brain tissue from patients with and without epilepsy

The present study was to investigate potential biomarkers and therapeutic targets for epilepsy by conducting a transcriptomic and proteomic analysis of human brain tissue from patients with epileptic lesions. Brain tissue was collected from the epileptic lesions after surgical resection and surgical removed brain tissue from non-epileptic patients. Using RNA sequencing and iTRAQ-based proteomic analysis, The transcriptomic analysis identified 1,604 DEGs, with 584 upregulated and 1,020 downregulated. The proteomic analysis identified 694 DEPs, with 331 upregulated and 363 downregulated. The combined transcriptomic and proteomic analysis showed that the DEGs and DEPs were mainly enriched in biological processes such as D-aspartate transport, transmembrane transport, cell junctions, vesicle transport, and metabolic processes. Tubulin polymerization promoting protein family member-3 (TPPP3), proprotein convertase subtilisin/kexin type-1 (PCSK1), and dihydropyrimidinase-like 3 (DPYSL3) were significantly altered in the epilepsy patients, and their expression trends were confirmed by the RT-qPCR, WB, and IHC staining results. By integrating transcriptomic and proteomic analyses, we identified genes and proteins expressed differently in epileptic and non-epileptic patients and their associated biological processes. Three key DEPs (TPPP3, PCSK1, and DPYSL3) were identified, indicating their potential significance in the pathological mechanisms of epilepsy.