Background/Aim: Increased oxidative stress plays a crucial role in pathogenesis of various diseases. The present study aims to investigate glutathione reductase (GR) and malondialdehyde (MDA) enzymes as markers of oxidative stress mechanisms in lumbar disc degeneration disease (LDDD). Patients and Methods: The study group consisted of 39 patients diagnosed with LDD and 37 healthy individuals in the control group. The enzyme-linked immunosorbent assay (ELISA) method was used to determine serum GR and MDA levels in the two study groups. Results: Serum GR levels were significantly lower (p=0.008), while MDA levels were significantly higher in the patient group compared to the controls (p=0.025). Conclusion: Oxidative stress mechanisms play a crucial role in disc degeneration and GR deficiency could be an eligible risk factor for LDDD.

A bioinformatics approach to identify potential biomarkers of high-grade ovarian cancer - Journal of the Turkish-German Gynecological Association

Granulomatous mastitis (GM) is a rare, benign, but chronic and recurrent inflammatory breast disease that significantly impacts physical and psychological well-being. It often presents symptoms such as pain, swelling, and discharge, leading to diagnostic confusion with malignancy. The etiology of GM remains unclear, though autoimmune and multifactorial components are suspected. This study aimed to explore the genetic underpinnings of GM using whole-exome sequencing (WES) on 22 GM patients and 52 healthy controls to identify single nucleotide variants (SNVs) and copy number variations (CNVs) potentially linked to the disease. WES analysis revealed novel SNVs in six genes: BRCA2 (rs169547), CFTR (rs4727853), NCF1 (rs10614), PTPN22 (rs2476601), HLA-DRB1 (seven variants), and C3 (rs406514). Notably, most of these variants are associated with immune regulation and inflammatory pathways, supporting the hypothesis that GM is an autoimmune disease. However, all identified variants were classified as benign according to the American College of Medical Genetics and Genomics (ACMG) guidelines, necessitating further investigation into their potential functional effects. Despite conducting CNV analysis, no significant variations were identified. This study represents a foundational step in linking genetic predisposition to GM and highlights the need for integrating genetic, clinical, and functional data to better understand GM’s pathophysiology. Future research should focus on larger cohorts, functional studies, and exploring multifactorial contributors to GM, including hormonal and environmental factors.

Chronic kidney disease (CKD) is an established risk factor for Parkinson’s disease (PD), but the molecular mechanisms linking these two conditions remain elusive. We performed a systems biology analysis by retrieving high-confidence gene–disease associations from DisGeNET v7.0 (PD: score ≥ 0.8, EI ≥ 0.4; CKD: score ≥ 0.6, EI ≥ 0.4) and constructing a protein–protein interaction (PPI) network via STRING v11.5 (confidence ≥ 0.700). Direct “molecular bridges” between CKD and PD proteins were identified and validated using independent databases. To corroborate biological feasibility, candidate proteins were cross-referenced with ExoCarta and Vesiclepedia databases for exosomal localization. Functional enrichment, tissue expression, and pathway analyses were conducted. Despite zero gene overlap (64 PD genes, 17 CKD genes), the PPI network showed significant convergence (81 nodes, 280 edges, PPI enrichment p < 1.0 × 10⁻¹⁶). Fifteen high-confidence molecular bridges were identified, including the Apolipoprotein A1 (APOA1)–α-synuclein (SNCA) interaction (combined score 0.883), which was independently validated by IntAct. Functional enrichment revealed specific association of APOA1–SNCA with “amyloid fiber formation” (false discovery rate (FDR) = 0.038). Both APOA1 and SNCA are annotated as exosome components (Kyoto Encyclopedia of Genes and Genomes (KEGG) ko04147) and were confirmed as consistent cargo in plasma, urine, and platelet-derived extracellular vesicles within proteomic databases (ExoCarta IDs: 335, 6622). Global pathway analysis highlighted inflammation, oxidative stress, and the advanced glycation end product (AGE)–receptor for AGE (RAGE) pathway. We propose an integrative model wherein CKD-induced dysregulation of APOA1 promotes α-synuclein misfolding and aggregation, and the co-packaging of these proteins into exosomes provides a plausible vehicle for kidney-to-brain propagation. This framework offers testable hypotheses and potential therapeutic targets for PD-CKD comorbidity.

The World Health Organization (WHO) CNS5 classification, updated in 2021, has brought about a significant transformation in the diagnosis and treatment of IDH-wildtype glioblastoma, a subgroup of aggressive brain tumors. This new system, which incorporates molecular markers alongside traditional tissue analysis, provides a more refined approach that facilitates the identification of distinct glioblastoma subtypes with unique genetic profiles. Examples of these subtypes include IDH-mutant astrocytoma, IDH-mutant and 1p/19q-deleted oligodendroglioma, and IDH-wildtype glioblastoma. Despite advancements in genetics and targeted therapies, the treatment of these malignant tumors remains an ongoing quest. Therefore, the need for more specific diagnostic and therapeutic approaches is undeniable. MicroRNAs (miRNAs) are emerging as molecules that molecular biology has brought to the medical world in this context. These tiny molecules act as master regulators of gene expression and hold immense potential for glioblastoma diagnosis, prognosis prediction, and biomarker development. Recent research has highlighted the potential of miRNAs as therapeutic strategies, attracting scientific interest to this point. This review examines the current relationships of miRNAs in the context of IDH-wildtype glioblastoma within the framework of the WHO CNS5 classification. Utilizing extensive databases, this article investigates the intricate relationship between genetic abnormalities defined in the latest WHO classification and dysregulated miRNAs. By analyzing proposed molecular biomarkers and associated miRNA dysregulation, we aim to pave the way for the development of personalized miRNA-based therapies for this aggressive cancer type.