Background: Wilson’s disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in the liver and brain. Given the clinical heterogeneity of the disease, this study aimed to characterize the mutational spectrum of ATP7B and explore genotype–phenotype correlations in Turkish patients. Methods: Whole-exome sequencing (WES) was performed in 17 Turkish patients clinically diagnosed with WD. Variants were annotated and evaluated using five in silico prediction tools (REVEL, CADD, PolyPhen, SIFT, MutationTaster). Copy number variation (CNV) analysis was conducted using the CLC Genomics Server (Version 22.0.2). Results: A total of 14 distinct ATP7B variants were identified, comprising 12 missense, 1 nonsense, and 1 frameshift mutation. Variant distribution showed some phenotype-specific patterns: four variants were found more frequently in hepatic cases and three in neurological cases, although no statistically significant or consistent correlation between genotype and clinical presentation could be established. The most frequent mutation was p.His1069Gln, present in both phenotypes. All missense variants were predicted to be pathogenic by at least three computational tools, with high concordance among platforms. No pathogenic CNVs were detected. Conclusions: This study expands the mutational landscape of ATP7B in Turkish patients with WD and supports the utility of WES combined with in silico tools for accurate variant classification. The results emphasize the genetic heterogeneity of WD and suggest possible associations between certain mutations and clinical phenotypes.

Ranunculaceae familyasının bir üyesi olan Nigella sativa, Güney Avrupa ve Batı Asya’da doğal olarak yetişen ve dünyanın birçok bölgesinde kültive edilen tek yıllık bir bitkidir. Dünya mutfaklarında baharat olarak kullanılmasının yanı sıra binlerce yıldır Unani, Ayurveda, Siddha ve Tıbb-ı Nebevî gibi Geleneksel Tıp Sistemleri’nde kullanılan ve kutsallık atfedilen bu şifâlı bitki günümüzde de gastrointestinal rahatsızlıklar, cilt hastalıkları, diyabet ve kanser hastalıklarında ve ayrıca kozmetik amaçlar ile saç dökülmesine karşı ve yaşlanma karşıtı cilt bakımında kullanılmaktadır. Yaygın kullanımına rağmen, tıbbî amaçlı kullanılan Çörek Otu (Nigella sativa) bitkisi sıklıkla belirgin bir özellik olarak dikenimsi çanak yaprakları olan ve süs bitkisi olarak kullanılan Şam Çörek Otu (Nigella damascena) bitkisi ile karıştırılmaktadır; ki bu karışıklık maalesef bilimsel literatürde de söz konusudur. Bu çalışma ile Nigella türlerinin doğru tanınması ve tanımlanması amacıyla bir farkındalık oluşturmak, Nigella sativa’nın içerdiği timokinon, p-simen, karvakrol, timol ve trans-anetol gibi biyoaktif fitokimyasalların farmakolojik etkilerini özetlemek ve ayrıca son yıllarda yapılan araştırmaların değerlendirilmesi hedeflenmiştir.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a highly transmissible coronavirus and has caused a pandemic of acute respiratory disease, named ‘coronavirus disease 2019’ (COVID-19). COVID-19 has a deep impact on public health as one of the most serious pandemics in the last century. Tracking SARS-CoV-2 is important for monitoring and assessing its evolution. This is only possible by detecting all mutations in the viral genome through genomic sequencing. Moreover, accurate detection of SARS-CoV-2 and tracking its mutations is also required for its correct diagnosis. Potential effects of mutations on the prognosis of the disease can be observed. Assignment of epidemiological lineages in an emerging pandemic requires efforts. To address this, we collected 1000 SARS-CoV-2 samples from different geographical regions in Turkey and analyze their genome comprehensively. To track the virus across Turkey we focus on 10 distinct cities in different geographic regions. Each SARS-CoV-2 genome was analyzed and named according to the nomenclature system of Nextclade and Pangolin Lineage. Furthermore, the frequency of the variations observed in 10 months was also determined by region. In this way, we have observed how the virus mutations and what kind of transmission mechanism it has. The effects of age and disease severity on lineage distribution were other considered parameters. The temporal rates of SARS-CoV-2 variants by time in Turkey were close to the global trend. This study is one of the most comprehensive whole genome analyses of SARS-CoV-2 that represents a general picture of the distribution of SARS-CoV-2 variations in Turkey in 2021. Author Summary Since the outbreak of the COVID-19 pandemic in 2019, the viral genome of SARS-CoV-2 was analysed intensively all over the world both to detect its zoonotic origin and the emerging variants worldwide together with the variants’ effect on the prognosis and treatment, respectively, of the infection. Remarkable COVID-19 studies were also made in Turkey as it was in the rest of the world. To date, indeed, almost all studies on COVID-19 in Turkey either sequenced only a small number of the viral genome or analysed the viral genome which was obtained from online databases. In respect thereof, our study constitutes a milestone regarding both the huge sample size consisting of 1000 viral genomes and the widespread geographic origin of the viral genome samples. Our study provides new insights both into the SARS-CoV-2 landscape of Turkey and the transmission of the emerging viral pathogen and its interaction with its vertebrate host.

Background/aim: Every year, hundreds of thousands of people worldwide suffer from traumatic spinal cord injury (tSCI), which causes irreversible damage, edema, and inflammation. Despite its devastating impact, no safe and effective medication is available. Edema formation is one of the earliest pathological events in tSCI, beginning within minutes after injury. Cytotoxic edema progresses to vasogenic edema, exacerbating irreversible damage. Our study aimed to investigate a therapeutic approach targeting cytotoxic edema in the acute phase of tSCI to improve treatment outcomes. Aquaporins (AQPs) are crucial in edema formation and tSCI pathogenesis. Vasopressin, also known as the antidiuretic hormone, modulates Aqp expression and translocation by initiating cell signaling via vasopressin 1a receptor (V1aR) and vasopressin 2 receptor (V2R). We investigated the effects of two V1aR and V2R antagonists (relcovaptan and tolvaptan, respectively) on edema formation and Aqp expression in tSCI. Materials and methods: Transcriptome analysis was performed on male Sprague Dawley rats that were traumatized to determine the effect of relcovaptan and tolvaptan after tSCI. Gene set enrichment analysis and bioinformatics approaches identified critical genes and signaling pathways associated with the drug treatment. Results: According to our results, tolvaptan was not suitable for the treatment of tSCI. On the other hand, relcovaptan had multiple positive effects. These include not only the positive effect on edema, which is achieved by suppression of Aqp1, Aqp4, and Aqp11 expression, but also immunoregulation, neuroprotection, neuroregeneration, and osmoregulation via activator protein-1 and galanin. Conclusion: Our study suggests that clinical application of relcovaptan may be a promising treatment option for improving tSCI.