Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic generalized epilepsy syndromes, yet its molecular pathogenesis remains incompletely understood. Circular RNAs (circRNAs) are stable non-coding RNAs with important regulatory roles and increasing relevance in neurological disorders. In this study, we investigated for the first time the association between selected circRNAs (hsa_circ_0000218, hsa_circ_0000229, hsa_circ_0000249, hsa_circ_0002010, and hsa_circ_0000143) and JME. Total RNA was isolated from peripheral blood samples of 41 patients with JME and 41 healthy controls, followed by RNase R treatment and quantitative real-time PCR analysis. Expression levels of hsa_circ_0002010 and hsa_circ_0000143 were significantly upregulated in patients with JME compared with controls (both p < 0.001), whereas hsa_circ_0000249 was significantly downregulated ( p < 0.001). No significant differences were observed for hsa_circ_0000218 or hsa_circ_0000229. Sex-specific analyses revealed differential expression patterns, and hsa_circ_0002010 and hsa_circ_0000249 were associated with drug resistance. Our findings suggest that certain circRNAs may be involved in molecular pathways related to JME and may provide preliminary information to inform future studies exploring their potential relevance in JME.

TGK (Tekrarlayan Gebelik Kaybı) etiyolojisinde rol oynayan faktörlerin % 50’si genetiktir. Resiprokal translokasyonlar kromozomal yeniden düzenlenmelerdir. Dengeli resiprokal translokasyon taşıyıcıları % 50 oranında dengesiz genetik materyal içeren gametler oluşturmakta ve bu durum TGK’ ya veya konjenital anomalilere neden olmaktadır. TGK öyküsü ile Mersin Üniversitesi Hastanesi üroloji kliniğine başvuran probandın eşinde 8. haftada embriyonik gelişimin durması nedeniyle dört küretaj öyküsü vardı, bir sağlıklı çocuğa sahipti. Laboratuvarımıza yönlendirilen hastanın pedigrisi alındıktan sonra sitogenetik analizi yapıldı. Probandın 46,XY,t(10;17)(p13;q22) dengeli resiprokal translokasyon taşıyıcısı olduğu tespit edildi. Translokasyona uğrayan 17q22àqter bölgesinde proteine kodlanan 606 gen bulunmaktadır. Bunlardan bazıları, CDK3 (Cyclin-Dependent Kinase 3; Cell Division Kinase 3), GAA (Gluosidase, Alpha, Acid) ve GRB2 (Growth Factor Receptor- Bound Protein 2) gibi embriyonik gelişimde ve hücre metabolizmasında önemli rol oynayan genlerdir. Probandın gametlerine dengesiz genetik materyal aktarılması durumunda embriyo bu bölgede kodlanan genler açısından monozomik veya trizomik olacaktır. Bu durumda embriyo gelişimi durmakta ve gebelik abortus ile sonuçlanmaktadır.

Crimean–Congo hemorrhagic fever (CCHF) is a severe tick-borne viral disease with high mortality rates and no approved specific antiviral therapy or vaccine. Circular RNAs (circRNAs) are emerging regulators of gene expression and have been implicated in various infectious and inflammatory diseases; however, their role in CCHF remains unknown. In this study, we investigated circRNA expression profiles in peripheral blood samples from CCHF patients and healthy controls. Total RNA was isolated, enriched for circRNAs using RNase R treatment, and analyzed with the Arraystar Human circRNA Array V2 platform. Differential expression analysis was performed using the limma package in R, followed by RT-PCR validation and bioinformatic analyses. Compared with healthy controls, 15 circRNAs were significantly upregulated and 264 were significantly downregulated in CCHF patients. The most highly upregulated circRNAs included hsa_circ_011083, hsa_circ_092556, hsa_circ_001766, hsa_circ_001569, and hsa_circ_027934, whereas hsa_circ_405788, hsa_circ_104982, hsa_circ_002008, hsa_circ_406768, and hsa_circ_037139 were among the most downregulated. Additionally, 641 and 455 differentially expressed circRNAs were identified in fatal–control and fatal–nonfatal comparisons, respectively. Functional enrichment analyses revealed associations with immune response, inflammatory signaling, and host–virus interaction pathways. To our knowledge, this is the first study to characterize circRNA expression patterns in CCHF, providing novel insights into disease pathogenesis and identifying potential biomarkers associated with disease severity and mortality.

Smad Family Member (SMAD), a protein family responsible for transducing the signal induced by TGF-beta into the nucleus, is thought to play a role in the pathology of many heart diseases. Therefore, we aimed to evaluate the influence of the SMAD1 rs1016792 polymorphism and gene expression on pulmonary arterial hypertension (PAH) due to congenital heart disease (CHD) in children. A total of 90 children, 45 of whom were PAH-CHD children and 45 healthy children, were included in the study. Patients were selected from those who were diagnosed and followed in the Department of Pediatric Cardiology.The SMAD1 rs1016792 genotyping and expression analysis was performed using a real-time polymerase chain reaction (RT-PCR)-based system. It was determined that the left ventricular end-diastolic diameter (LVEDD) value was lower in the patient group than in the control group, while the pulmonary artery pressure (PAP) value was higher in the patient group than in the control group. When the SMAD1 gene expression level was examined, a statistically significant difference was found between the patient and control groups. Patients had decreased SMAD1 expression compared to controls (p 0.05). There was no difference between genotype distribution and SMAD1 expression levels in the groups. In this study, we showed for the first time that SMAD1 expression is decreased in children with PAH-CHD. These results will be a preliminary step toward understanding the role of SMAD1 in the etiopathogenesis of CHD.