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Updated: Sep 16, 2025
Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
Transcriptome profiling reveals major structural genes, transcription factors and biosynthetic pathways in refractory
Xinyu Ben1, Peng Zhang1,2, Chang Li1
1Key Laboratory of Tropical Translational Medicine of Ministry of Education & Key Laboratory of Brain Science Research and Transformation in Tropical Environment of Hainan Province, Department of Neurology, The First Affiliated Hospital of Hainan Medical University, Haikou, 570102, China.
Background:
Epilepsy is a chronic neurological disorder known for its recurring seizures, prolonged course, and unpredictability. Importantly, a group of patients with refractory epilepsy do not respond to pharmacological treatments, even though they show symptoms similar to those of drug-responsive epilepsy. This situation creates substantial challenges in diagnosing and managing the disorder. In tropical regions, specific environmental and economic factors intensify the socio-economic impact. Consequently, discovering blood-based biomarkers for tropical refractory epilepsy is highly valuable for developing prevention and treatment approaches.
Methods:
In our study, we used RNA sequencing (RNA-seq) to examine the peripheral blood transcriptomes of both healthy individuals and patients with tropical refractory epilepsy.
Results:
Our analysis identified a total of 3,381 differentially expressed genes (DEGs). Using bioinformatics tools and manual verification, we pinpointed CAMK2A, CAMK2B, and CAMK2D as key genes potentially involved in tropical refractory epilepsy. Moreover, our comparison of alternative splicing (AS) patterns between healthy individuals and patients revealed 1,471 differentially alternative splicing (DAS) events.
Conclusions:
The interactions between CAMK2A, CAMK2B, CAMK2D, and PDE4B, CYBB, RAP1A, RAP1B, CALM1, FLNA, ATF4, PLCB2 could underlie potential mechanisms of tropical RE.
