Epilepsy is a neurological disease defined by episodes of synchronous convulsions. Recently, miRNAs have been proven as promising biomarkers for multiple ailments like tumors and neurodegenerative disorders; their role in epilepsy is still unclear. This study aimed to understand the involvement of miRNAs in the disease and to detect the potential biomarkers for the treatment of epilepsy. RNA transcripts, and miRNA from brain tissue and plasma small extracellular vesicle samples of epileptogenic patients from 6 different studies downloaded from the NCBI sequence read archive (SRA) were analyzed with particular interest in genes that might be involved in epilepsy. Alignment of transcripts to hg38 was done using HISAT2 and the raw counts were generated using HTseq-count. miRNA genes were identified using miRDeep2. EdgeR and GEO2 were used to identify DEGs for both mRNA and miRNA datasets. Finally, TargetScan web tool was used to predict potentially significantly expressed mRNA target genes using the identified miRNA genes. Analysis of these datasets revealed target genes in epilepsy and their associated miRNAs. SIX4 and KCTD7 were under-expressed in epileptogenic zones of the brain compared to the irritative zone. CABP1, SLC20A1 and SLC35G1 were under-expressed in brain tissues. Hsa-miR-27a-3p was identified as a regulator of CABP1 expression, hsa-let-7b-5p regulates SLC20A1 while hsa-miR-15a-5p and hsa-miR-195-5p are regulators for SLC35G1. These observations highlight the importance of miRNAs as novel biomarkers of epilepsy. Understanding and controlling these regulatory interactions may help to define potential therapies for epilepsy. This would also help to better understand miRNA-mediated gene regulation in epilepsy.
Background: Multiple sclerosis (MS) is a chronic T-cell-mediated neurological disease, where the immune system mistakenly attacks the protective myelin sheath around axons in the central nervous system, which leads to progressive neurological impairment. It is a multifactorial disease combining genetic, environmental and immunological factors. The aim of the present study is to explore the association between the single nucleotide polymorphisms (SNPs) rs1544410 ( Bsm I) of the vitamin D receptor (VDR) gene and rs1520333 of the Interleukin-7 (IL7) gene and genetic susceptibility to MS in the Tunisian population. Results: In a case-control study involving 90 MS patients and 80 healthy controls (HC), genotyping of these polymorphisms was performed using Polymerase Chain Reaction (PCR) followed by automatic sequencing. Allelic and genotype frequencies of rs1544410 and rs1520333 were compared between MS patients and HC, and the differences were not significant ( p > 0.05). Also, the calculated odds ratios (OR) did not demonstrate any risk or protective genotype or allele (p (OR) > 0.05) for the studied SNPs. Conclusions: Our findings indicate that rs1544410 of VDR and rs1520333 of IL7 show no significant association with MS susceptibility, suggesting that these variants are unlikely to serve as useful diagnostic markers in the Tunisian population, although this does not exclude a potential involvement of the VDR and IL7 pathways through other mechanisms.
ISHS XII EUCARPIA Symposium on Fruit Breeding and Genetics GENETIC DIVERSITY ANALYSIS AND MOLECULAR CHARACTERIZATION OF TUNISIAN FIGS (FICUS CARICA L.)