Jüvenil miyoklonik epilepside potansiyel biyobelirteç olarak miR-1179'un değerlendirilmesi

Abstract

Amaç: Juvenil miyoklonik epilepsi (JME), çocukluk çağı epilepsilerinin en yaygın tiplerinden biridir ve tüm epilepsilerin %5-10'unu oluşturur. Birçok hastalıkta olduğu gibi epilepside de mikroRNA'ların (miRNA'lar) değişen ekspresyon seviyeleri bildirilmiştir. Bilindiği gibi, miRNA'lar gen ekspresyonunu post-transkripsiyonel olarak düzenlerler ve klinik örneklerdeki stabiliteleri sayesinde tanısal biyobelirteç potansiyeline sahiptirler. Burada, JME hastalarında miR-1179 ifade düzeyini belirlemeyi ve miR-1179'un tanısal biyobelirteç potansiyelini değerlendirmeyi amaçladık. Gereç ve Yöntem: Bu çalışmaya, 20 hasta ve 20 sağlıklı kontrol dahil edilmiş ve katılımcıların periferik kan örneklerinden total RNA ekstrakte edilmiştir. miR-1179'un rölatif ekspresyon seviyesini hesaplamak için qRT-PZR gerçekleştirilmiştir. Ek olarak, JME'de miR-1179'un tanısal değerini değerlendirmek için ROC eğrileri oluşturulmuştur. Bulgular: JME tanılı hastalarda sağlıklı kontrollere kıyasla miR-1179’un ifade seviyesi istatistiksel olarak anlamlı bir şekilde artmıştır (p<0,0001). ROC analizi miR-1179'un 0,89 AUC değeri ile iyi bir tanısal biyobelirteç olduğunu ortaya koymuştur. Sonuç: miR-1179, JME tanısında dikkate değer bir biyobelirteç olarak değerlendirilebilir. miR-1179 ve CALM1 arasındaki etkileşim fonksiyonel çalışmalarla güçlendirilmelidir. Daha büyük kohortlarla yapılacak ileri araştırmalar JME'nin etiyopatogenezini aydınlatmaya yardımcı olacaktır.

Keywords

• Jüvenil miyoklonik epilepsi
• miR-1179
• ROC eğrisi
• biyobelirteç

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

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
• miR-1179
• ROC curve
• biomarker

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