Analysis of transcriptomic characteristics of brain tissue in patients with Rasmussen encephalitis

Abstract

Objective To investigate the transcriptomic characteristics of the brain tissue in patients with Rasmussen encephalitis (RE). Methods RNA-seq technique was used to detect the gene expression profiles in the brain tissues from 4 patients with RE and 4 with temporal lobe epilepsy (TLE) admitted to Sanbo Brain Hospital, Capital Medical University between April, 2008 and December, 2013. Results Cluster analysis showed significant differences in the differentially expressed genes (DEGs) in the brain tissue between the patients with RE and those with TLE. We identified a total of 1 285 DEGs, of which 782 (60.9%) were down-regulated and 503 (39.1%) were up-regulated in RE. The up-regulated DEGs were mainly enriched in the pathways associated with neuronal signal transduction, possibly in relation with frequent seizures in patients with RE; the down-regulated DEGs were mainly enriched in the pathways associated with cytoskeleton, cell cycle and chemotaxis, which may be related to neuronal loss and regeneration and immune responses to infection by some pathogens in the brain tissue of patients with RE. TAS2R40, HTR4 and NAP1L2 were identified as the key up-regulated DEGs, and CXXC1, SEPTIN8 and CCR7 as the key down-regulated DEGs. Conclusion The brain tissue of patients with RE shows characteristic transcriptomic changes, and the DEGs are mainly enriched in neuronal signal transduction, cell cycle and chemotaxis-related pathways.

Keywords

• rasmussen encephalitis
• epilepsy
• rna-seq
• transcriptome