Abstracts

Evaluation of Human Brain Tissue Transcriptome Identifies Novel Risk Genes and Altered Molecular Pathways in Glioma-Related Seizures

Abstract number : 1.381
Submission category : 12. Genetics / 12A. Human Studies
Year : 2019
Submission ID : 2421374
Source : www.aesnet.org
Presentation date : 12/7/2019 6:00:00 PM
Published date : Nov 25, 2019, 12:14 PM

Authors :
Anteneh M. Feyissa, Mayo Clinic; Anna Carrano, Mayo Clinic; Xue Wang, Mayo Clinic; Mariet Allen, Mayo Clinic; Nilufer Ertekin-Taner, Mayo Clinic; William O. Tatum IV, Mayo Clinic; Hugo Guerrero Cazares, Mayo Clinic; Alfredo Quinones-Hinojosa, Mayo Clinic

Rationale: Seizures develop in 40-70% of patients with gliomas. Increased seizure burden and refractory seizures negatively impact quality of life, causing cognitive deterioration, and may result in significant morbidity in these patients. Recently, glutamate-induced excitotoxicity and disruption of intracellular communication were implicated in the pathogenesis of glioma-related seizures (GRS). However, the exact pathogenesis of GRS remains poorly understood. Our goal is to identify new pathways perturbed in and which may lead to GRS.  Methods: We collected brain transcriptome levels from: i) healthy controls (n=5), ii) patients with GRS (n=9), iii) patients with glioma without seizures (non-GRS, n=8), and iv) patients with idiopathic (non-lesional) temporal lobe epilepsy (iTLE, n=7) using Illumina poly-A capture-based high-throughput RNA sequencing approach. Following sequence alignment and quality control, differential gene expression analysis was conducted to ascertain expression differences between the four groups. We identified molecular pathways enriched for differentially expressed genes (DEG) using Ingenuity Pathway Analysis. DEGs were defined as those with log2 fold change >= 2 and q-value < 0.01 when compared to the control group.
Genetics