Abstract
Epigenetics underlying refractory epilepsy is poorly understood, especially in patients without distinctive genetic alterations. DNA methylation may affect gene expression in epilepsy without affecting DNA sequences. Herein, we analyzed genome-wide DNA methylation and gene expression in brain tissues of 10 patients with refractory epilepsy using methylated DNA immunoprecipitation linked with sequencing and mRNA Sequencing. Diverse distribution of differentially methylated genes was found in X chromosome, while differentially methylated genes appeared rarely in Y chromosome. 62 differentially expressed genes, such as MMP19, AZGP1, DES, and LGR6 were correlated with refractory epilepsy for the first time. Although general trends of differentially enriched gene ontology terms and Kyoto Encyclopedia of Genes and Genome pathways in this study are consistent with previous researches, differences also exist in many specific gene ontology terms and Kyoto Encyclopedia of Genes and Genome pathways. These findings provide a new genome-wide profiling of DNA methylation and gene expression in brain tissues of patients with refractory epilepsy, which may provide a basis for further study on the etiology and mechanisms of refractory epilepsy.
Highlights
65 millions of people were affected by epilepsy in the world according to International League Against Epilepsy (ILAE) [1], and approximately 36% of epilepsy patients were drug-resistant [2]
Diverse distribution of differentially methylated genes was found in X chromosome, while differentially methylated genes appeared rarely in Y chromosome. 62 differentially expressed genes, such as MMP19, AZGP1, DES, and LGR6 were correlated with refractory epilepsy for the first time
General trends of differentially enriched gene ontology terms and Kyoto Encyclopedia of Genes and Genome pathways in this study are consistent with previous researches, differences exist in many specific gene ontology terms and Kyoto Encyclopedia of Genes and Genome pathways
Summary
65 millions of people were affected by epilepsy in the world according to International League Against Epilepsy (ILAE) [1], and approximately 36% of epilepsy patients were drug-resistant [2]. Have been associated with different types of epilepsy, among which, some were associated with refractory epilepsy [3, 4, 5, 6]. Many environmental factors, such as economic situation, diet, trauma, stroke, etc. DNA methylation is raised as one of the main epigenetic mechanisms in epilepsy [14]. Previous genome-wide DNA methylation profiling in epileptic animal models presented altered DNA methylation in promoters of genes, and identified many genes that were associated with epilepsy [15]
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