Multi-omics in mesial temporal lobe epilepsy with hippocampal sclerosis: Clues into the underlying mechanisms leading to disease

Author(s)

Bruxel, Estela M. ; Bruno, Danielle C. F. ; do Canto, Amanda M. ; Geraldis, Jaqueline C. ; Godoi, Alexandre B. ; Martin, Mariana ; Lopes-Cendes, Iscia ^{[1, 2]}

Affiliation

^[1] Univ Campinas UNICAMP, Sch Med Sci, Dept Med Genet, Tessalia Vieira Camargo 126, Campinas, SP - Brazil

^[2] Univ Campinas UNICAMP, Sch Med Sci, Dept Genom Med, Tessalia Vieira Camargo 126, Campinas, SP - Brazil

• Document type: Review article
• Source: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY; v. 90, n. SI, p. 34-50, AUG 2021.
• Web of Science Citations: 1

Abstract

Mesial temporal lobe epilepsy (MTLE) is one of the most common types of focal epilepsy in the adult population. MTLE is frequently associated with a specific histopathological lesion in the medial temporal structures, namely hippocampal sclerosis (HS). A significant proportion of patients with MTLE+HS have severe epilepsy, which is often resistant to clinical treatment. For these patients, surgical resection of the epileptogenic lesion can be performed. Our understanding of the underlying mechanisms leading to MTLE+HS has improved significantly over the past few decades. In this review, we aim to present and discuss the most recent findings regarding the genetic determinants of MTLE+HS. Furthermore, we will address studies about transcriptomics, proteomics, metabolomics, and epigenomic signatures of the tissue that is surgically removed from patients with refractory MTLE+HS and animal models of the disorder. We expect to provide an overview and a critical discussion of the findings, limitations, new approaches, and future directions for multi-omics studies in MTLE+HS. (AU)

• FAPESP's process: 20/06168-4 - Studying the role of genomic cis-regulatory elements in the mechanisms underlying Mesial Temporal Lobe Epilepsy
• Grantee: Jaqueline Cruz Geraldis
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 19/25948-3 - Analysis of synaptosomes isolated from hippocampus tissue of patients with Mesial Temporal Lobe Epilepsy using proteomics and metabolomics
• Grantee: Amanda Morato Do Canto
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 18/03254-7 - Using expression quantitative-trait association studies (eGWAS) to identify loci for mesial temporal lobe epilepsy
• Grantee: Estela Maria Bruxel
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 19/20953-9 - Technical training in RNA-sequencing for transcriptome studies
• Grantee: Mariana Martin
• Support Opportunities: Scholarships in Brazil - Technical Training Program - Technical Training
• FAPESP's process: 19/00213-0 - Metabolomic analysis from plasma of patients with mesial temporal lobe epilepsy: searching for drug resistant biomarkers
• Grantee: Alexandre Barcia de Godoi
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• FAPESP's process: 17/26167-0 - Detection of methylated circulating DNA as a non-invasive biomarker for the identification of patients with mesial temporal lobe epilepsy and ischemic stroke
• Grantee: Danielle do Carmo Ferreira Bruno
• Support Opportunities: Scholarships in Brazil - Post-Doctoral