Genetik jeneralize epilepside miRNA'ların genetik biyobelirteçler olarak değerlendirilmesi

Abstract

Evaluation of miRNAs as genetic biomarkers in genetic generalized epilepsySimay Bozkurt1, Nur Damla Korkmaz2, Bilge Nur Bilge3, Aysegul Yabaci Tak4, Alisan Bayrakoglu5, Ferda Uslu Ilgen5, Emrah Yucesan6, Fahri Akbas1,21Bezmialem Vakif University, Institute of Health Sciences, Department of Biotechnology, Istanbul, Türkiye.2Bezmialem Vakif University, Faculty of Medicine, Department of Medical Biology, Istanbul, Türkiye.3Istanbul University-Cerrahpasa, Institute of Neurological Sciences, Department of Neuroscience, Istanbul, Türkiye.4Bezmialem Vakif University, Faculty of Medicine, Department of Basic Medical Sciences, Department of Biostatistics and Medical Informatics, Istanbul, Türkiye.5Bezmialem Vakif University, Faculty of Medicine, Department of Neurology, Istanbul, Türkiye.6Istanbul University-Cerrahpasa, Institute of Neurological Sciences, Department of Neurogenetics, Istanbul, Türkiye.Objective: Genetic generalized epilepsy (GGE) is a subtype of epilepsy that involves the entire brain and has a genetic etiology. GGE accounts for 15-20% of all epilepsies. There is no specific genetic biomarker widely used that contributes to the diagnostic process of this disease. In the last decade, there has been a radical increase in the number of studies on the use of small non-coding RNAs found in the human genome as genetic biomarkers for various neurological diseases. MicroRNAs (miRNAs), the best-known small non-coding RNAs, play a critical role in regulating neuronal biological processes through the modulation of gene expression. Therefore, miRNAs have assumed an important role in biomarker research due to their stability in clinical samples. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients with the aim of evaluating their performance as diagnostic 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. The expression levels of miR-106b, miR-130a-3p and miR-194-5p were analyzed via qRT-PCR, and receiver operating characteristic (ROC) curves were generated and area under the curve (AUC) was calculated to evaluate the diagnostic values.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 suggest using miR-130a-3p as potential biomarker in the diagnosis and prognosis of GGE.Keywords: Genetic biomarker, genetic generalized epilepsy, microRNA, ROC curve.Acknowledgement: This study was supported by Bezmialem Foundation University, Scientific Research Projects Unit (Project no: 20230205).29Objective: Genetic generalized epilepsy (GGE) is a subtype of epilepsy that involves the entire brain and has a genetic etiology. GGE accounts for 15-20% of all epilepsies. There is no specific genetic biomarker widely used that contributes to the diagnostic process of this disease. In the last decade, there has been a radical increase in the number of studies on the use of small non-coding RNAs found in the human genome as genetic biomarkers for various neurological diseases. MicroRNAs (miRNAs), the best-known small non-coding RNAs, play a critical role in regulating neuronal biological processes through the modulation of gene expression. Therefore, miRNAs have assumed an important role in biomarker research due to their stability in clinical samples. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients with the aim of evaluating their performance as diagnostic 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. The expression levels of miR-106b, miR-130a-3p and miR-194-5p were analyzed via qRT-PCR, and receiver operating characteristic (ROC) curves were generated and area under the curve (AUC) was calculated to evaluate the diagnostic values.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 suggest using miR-130a-3p as potential biomarker in the diagnosis and prognosis of GGE.Keywords: Genetic biomarker, genetic generalized epilepsy, microRNA, ROC curve.Acknowledgement: This study was supported by Bezmialem Foundation University, Scientific Research Projects Unit (Project no: 20230205).29Objective: Genetic generalized epilepsy (GGE) is a subtype of epilepsy that involves the entire brain and has a genetic etiology. GGE accounts for 15-20% of all epilepsies. There is no specific genetic biomarker widely used that contributes to the diagnostic process of this disease. In the last decade, there has been a radical increase in the number of studies on the use of small non-coding RNAs found in the human genome as genetic biomarkers for various neurological diseases. MicroRNAs (miRNAs), the best-known small non-coding RNAs, play a critical role in regulating neuronal biological processes through the modulation of gene expression. Therefore, miRNAs have assumed an important role in biomarker research due to their stability in clinical samples. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients with the aim of evaluating their performance as diagnostic biomarkersEvaluation of miRNAs as genetic biomarkers in genetic generalized epilepsySimay Bozkurt1, Nur Damla Korkmaz2, Bilge Nur Bilge3, Aysegul Yabaci Tak4, Alisan Bayrakoglu5, Ferda Uslu Ilgen5, Emrah Yucesan6, Fahri Akbas1,21Bezmialem Vakif University, Institute of Health Sciences, Department of Biotechnology, Istanbul, Türkiye.2Bezmialem Vakif University, Faculty of Medicine, Department of Medical Biology, Istanbul, Türkiye.3Istanbul University-Cerrahpasa, Institute of Neurological Sciences, Department of Neuroscience, Istanbul, Türkiye.4Bezmialem Vakif University, Faculty of Medicine, Department of Basic Medical Sciences, Department of Biostatistics and Medical Informatics, Istanbul, Türkiye.5Bezmialem Vakif University, Faculty of Medicine, Department of Neurology, Istanbul, Türkiye.6Istanbul University-Cerrahpasa, Institute of Neurological Sciences, Department of Neurogenetics, Istanbul, Türkiye.Objective: Genetic generalized epilepsy (GGE) is a subtype of epilepsy that involves the entire brain and has a genetic etiology. GGE accounts for 15-20% of all epilepsies. There is no specific genetic biomarker widely used that contributes to the diagnostic process of this disease. In the last decade, there has been a radical increase in the number of studies on the use of small non-coding RNAs found in the human genome as genetic biomarkers for various neurological diseases. MicroRNAs (miRNAs), the best-known small non-coding RNAs, play a critical role in regulating neuronal biological processes through the modulation of gene expression. Therefore, miRNAs have assumed an important role in biomarker research due to their stability in clinical samples. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients with the aim of evaluating their performance as diagnostic 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. The expression levels of miR-106b, miR-130a-3p and miR-194-5p were analyzed via qRT-PCR, and receiver operating characteristic (ROC) curves were generated and area under the curve (AUC) was calculated to evaluate the diagnostic values.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 suggest using miR-130a-3p as potential biomarker in the diagnosis and prognosis of GGE.Keywords: Genetic biomarker, genetic generalized epilepsy, microRNA, ROC curve.Acknowledgement: This study was supported by Bezmialem Foundation University, Scientific Research Projects Unit (Project no: 20230205).29Objective: Genetic generalized epilepsy (GGE) is a subtype of epilepsy that involves the entire brain and has a genetic etiology. GGE accounts for 15-20% of all epilepsies. There is no specific genetic biomarker widely used that contributes to the diagnostic process of this disease. In the last decade, there has been a radical increase in the number of studies on the use of small non-coding RNAs found in the human genome as genetic biomarkers for various neurological diseases. MicroRNAs (miRNAs), the best-known small non-coding RNAs, play a critical role in regulating neuronal biological processes through the modulation of gene expression. Therefore, miRNAs have assumed an important role in biomarker research due to their stability in clinical samples. In our study, we examined the expression levels of miR-106b, miR-130a-3p, and miR-194-5p in GGE patients with the aim of evaluating their performance as diagnostic 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. The expression levels of miR-106b, miR-130a-3p and miR-194-5p were analyzed via qRT-PCR, and receiver operating characteristic (ROC) curves were generated and area under the curve (AUC) was calculated to evaluate the diagnostic values.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 suggest using miR-130a-3p as potential biomarker in the diagnosis and prognosis of GGE.Keywords: Genetic biomarker, genetic generalized epilepsy, microRNA, ROC curve.Acknowledgement: This study was supported by Bezmialem Foundation University, Scientific Research Projects Unit (Project no: 20230205).29