Biomarker detection in genetic generalized epilepsies

Introduction: Genetic Generalized Epilepsies (GGE) encompass approximately one-fourth of all epilepsies and are defined as a genetic epilepsy group that does not exhibit structural brain findings. There is no specific genetic biomarker used in the diagnosis of GGE. The most well-known genetic biomarkers, with the most research conducted on them, are microRNAs (miRNA). In previous studies examining many epilepsy patients, miRNA subtypes including miR-106b, miR-130a-3p, and miR-194-5p have been investigated, and it has been found that their expression levels statistically differ from those in a healthy control group. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients and aimed to determine potential candidate genetic biomarkers. Methods: 21 patients with isolated GGE and 18 healthy controls were recruited in this study and total RNA was extracted from blood samples of participants. cDNA synthesis was performed from the obtained RNAs. MiR-106b, miR-130a-3p, and miR-194-5p expression levels were analyzed by qRT-PCR, using U6 as a housekeeping gene. Receiver Operating Characteristic (ROC) analysis was used to evaluate the diagnostic value of the specified miRNAs, and the area under the curve (AUC) values were calculated, with a p-value less than 0.05 considered statistically significant. Results: The expression level of miR-130a-3p has shown statistically significant increase in patients compared to controls (p<0.05). The AUC value determined in the ROC analysis is 0.725. However, the expression levels of miR-106b and miR-194-5p are not detected statistically significant. Their AUC values in the ROC analysis are 0.648 and 0.571, respectively. Conclusion: The varying expression levels of miRNAs that we used in our study may be associated with the etiopathogenesis of GGE. Our findings suggests using miR-130a-3p as potential biomarker in the diagnosis and prognosis of GGE. Keywords: Genetic biomarker, Genetic generalized epilepsy, MicroRNA, ROC curve