Journal Article

·2022 OPEN ACCESS

Assessment of miR-1179 As a Potential Biomarker in Juvenile Myoclonic Epilepsy

Seda Süsgün , Ceyhun Toruntay YTU , Alişan Bayrakoğlu , Ferda İlgen Uslu , Emrah Yücesan

Experimed

Abstract

Objective: Juvenile myoclonic epilepsy (JME) is one of the most common childhood types of epilepsy and comprises 5-10% of all epilepsies. Altered expression levels of microRNAs (miRNAs) have been reported in epilepsy as in many diseases. As is known, miRNAs regulate gene expression post-transcriptionally and have potential as diagnostic biomarkers due to their stability in clinical samples. Herein, this study aimed to evaluate miR-1179 levels of JME patients and assess the potential of miR-1179 as a diagnostic biomarker. Material and Method: Twenty patients and 20 healthy controls were recruited in this study and total RNA was extracted from peripheral blood samples of participants. Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to calculate the relative expression level of miR-1179. Additionally, receiver operating characteristic (ROC) curve was conducted to evaluate the diagnostic value of miR-1179 in JME. Results: Expression levels of miR-1179 were statistically significantly increased in patients with JME compared to healthy controls (p<0.0001). ROC analysis revealed that miR-1179 is a well diagnostic biomarker with an area under the curve (AUC) of 0.89. Conclusion: miR-1179 may be considered a remarkable biomarker in the diagnosis of JME. The interaction between miR-1179 and its target Calmodulin 1 (CALM1) should be reinforced through functional studies. Further research in larger cohorts will help to enlighten the etiopathogenesis of JME.

Keywords

Juvenile myoclonic epilepsy Biomarker Epilepsy Receiver operating characteristic Medicine Internal medicine microRNA Molecular biomarkers Oncology Bioinformatics Biology Gene Genetics Psychiatry

Subject Areas

Genetics and Neurodevelopmental Disorders ·Genetics ·Life Sciences
MicroRNA in disease regulation ·Cancer Research ·Life Sciences
Adenosine and Purinergic Signaling ·Physiology ·Life Sciences

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