We have analyzed the following polymorphisms: C677T (rs 1801133) and A1298C (rs 1801131) in the methylenetetrahydrofolate reductase (MTHFR) gene in Bulgarian patients with non-obstructive azoospermia, attending reproductive clinics. We have compared the allele and genotype frequencies of both the MTHFR C677T and A1298C polymorphisms in our population to the European population and to a Bulgarian control group (n = 350). The results of our research have revealed a trend for a significantly higher frequency of the homozygote C/C genotype of MTHFR A1298C polymorphism in comparison to the European and Bulgarian controls (p < 0.08). The prevalence of the C/C homozygotes can be accepted as a risk factor for the development of non-obstructive azoospermia, especially in addition to other external and internal factors—diet, vitamin intake, other genetic polymorphisms or mutations in the genes involved in spermatogenesis.

Background: Metastatic melanoma is an extremely aggressive malignancy with limited therapeutic options, despite advances in targeted and immunotherapy. MicroRNAs are key post-transcriptional regulators of gene expression and play a critical role in tumor adaptation, invasion, and metastasis. The aim of our study was to identify dysregulated miRNAs which may serve as novel biomarkers and therapeutic targets. Materials and Methods: The study was conducted on FFPE samples from metastatic melanoma (n = 15), compared to healthy skin tissue (n = 6). BRAF V600E/Ec mutation status was established by Real-Time qPCR. Expression miRNA analysis was performed, using digital counting of 827 miRNAs on the NanoString platform, with data normalization and fold change calculations. Results: Following normalization and quality control metrics, 58 differentially expressed miRNAs were identified in BRAFwt melanoma samples: 6 overexpressed and 52 inderexpressed miRNAs. In BRAFmut melanoma, 37 microRNAs were differentially expressed: 11 overexpressed and 26 underexpressed. Four miRNAs showed elevated expression in both melanoma groups. Among them, miR-146a-5p and miR-4286 demonstrated the highest elevation, especially in BRAFmut tumors. We focused further on their targeted genes. Conclusion: This study demonstrates significant alterations in the miRNA expression profile in metastatic melanoma and highlights the potential of miR-146a-5p and miR-4286 as key regulators of tumor biology.

Endometriosis is a chronic, inflammatory, estrogen-dependent disease that affects approximately 6–10% of women of reproductive age. The present study aimed to investigate the expression of 48 immune-related genes in different types of biological samples from patients with histologically confirmed endometriosis compared to a control group. We analyzed (1) patients’ endometrial tissue, ectopic lesions, and menstrual and venous blood, as well as (2) the control group’s endometrial tissue and menstrual and venous blood. After RNA isolation, expression analysis of 48 immune-related genes was performed using NanoString nCounter^® Elements XT technology. All samples were normalized using nSolver Analysis Software, including control normalization and the use of a reference gene, as well as additional approaches for the detection of reliable differential expression. Expressions of the analyzed genes were similar in venous blood between patients and the controls; no significant dysregulation was found in menstrual blood. Most of the analyzed genes were upregulated in patients’ endometria. Three genes attracted our attention due to their overexpression in ectopic lesions. We were able to demonstrate the differential expression of three genes in ectopic lesions, suggesting their association with the development of endometriosis—THBS1, CHGB, and CYR61. The evidently higher expression of THBS1 in the ectopic lesions nominates this molecule as a potential therapeutic target in endometriosis as well.