Genetics & Applications

Antihelical Ossified Granule: A Recently Identified Potentially Inherited Human Trait in the Auricular Concha – A Case Study

2025-10-22T08:59:25+00:00

In the early stages of research on the genetics of human morphological traits, particular attention was given to the details of the physical complexities of the face. In this field, prominent focus was placed on the characteristics of the auricle, especially the types of the earlobe (lobulus auriculae). This paper presents the first data on the previously undescribed possibility of inheriting the ossified granules of the antihelix. Based on genealogical analysis of the presence/absence of the granule across five successive generations of a Bosnian family, evidence is provided for the autosomal recessive inheritance of this dimorphism.

Strategic Guidelines and Framework for Advancing Higher Education Programs in the Field of Biotechnology in Bosnia and Herzegovina

2025-10-22T10:03:58+00:00

This document presents strategic guidelines and a development framework aimed at enhancing higher education programs in biotechnology within Bosnia and Herzegovina. It emphasizes the importance of aligning academic curricula, research capacities, and innovation ecosystems with global sustainable development goals (SDGs) and emerging scientific trends. Drawing on insights from the 2025 scientific-expert symposium "Next-Generation Biotechnologists – Skills of Future Educators," this work outlines key recommendations for modernizing educational approaches, strengthening interdisciplinary collaboration, and fostering the next generation of biotechnologists equipped to meet societal and technological challenges. The framework is intended for academic institutions, policymakers, and stakeholders committed to advancing biotechnology education and innovation in the region.

Translational Insights into Cervical Cancer Screening: The Role of p16INK4a and Ki-67 in Early Detection

2025-10-01T08:16:45+00:00

Despite the global coverage of the early detection programs, cervical cancer is still one of the most common causes of death among women worldwide. The integration of Pap test in the healthcare systems worldwide has led to major advances in the diagnosis of premalignant changes in the cervix, although there are limitations regarding the sensitivity of the test. Due to the somewhat lower sensitivity and specificity of the Pap test, the Human Papillomavirus (HPV) (test has been adopted as the first-tier screening method. The further evaluation of the findings is followed by the various complementary techniques and methods to diagnose patients or quantify the risk of developing high-grade cervical intraepithelial lesions. These techniques are increasingly being investigated to provide specific and reliable final diagnosis and instruct the further treatment. This review summarizes the biological basis of p16 and Ki-67 expression, their correlation, and their diagnostic role in the triage of HPV-positive women. The analysis includes results from major clinical trials and meta-analyses, which demonstrate that dual immunostaining of p16/Ki-67 provides higher sensitivity for detecting CIN2+/CIN3+ compared to cytology alone, with an acceptable trade-off in specificity. In conclusion, dual staining represents a reliable complementary tool for the evaluation of abnormal cytological findings, improving early detection of cervical cancer and guiding the appropriate management and treatment of patients.

Detection of aminoglycoside-modifying enzyme genes in Pseudomonas aeruginosa clinical isolates

2025-06-13T12:09:40+00:00

Pseudomonas aeruginosa is an opportunistic pathogen that frequently causes infections in immunocompromised patients and is involved in outbreaks of hospital-acquired infections with a high mortality rate. Aminoglycosides are a large category of antibiotics that bind specifically to 16S rRNA in 30S ribosomal subunits and disturb protein translation. This antibiotic class plays a significant bactericidal role against a wide range of Gram-negative bacteria such as P. aeruginosa. Among different aminoglycoside resistance mechanisms, inactivation of drugs by plasmid-encoded aminoglycoside-modifying enzymes (AMEs) is a common determinant of aminoglycoside resistance in P. aeruginosa. These plasmids are spread worldwide, and they are transferred to a wide range of different species. This study aims to detect resistance mechanisms and identify the most prevalent aminoglycoside resistance genes in P. aeruginosa clinical isolates, collected from the University Clinical Centre Tuzla. This study included a total of 230 clinical P. aeruginosa isolates. Antimicrobial susceptibility tests were performed using the disk diffusion method and the Vitek2 system. Isolates displaying increased MIC values for aminoglycoside antibiotics were included in the multiplex PCR reaction, for the detection of aminoglycoside-modifying enzyme genes. The most prevalent genotype among isolates was aac (6')-I. All aac (6')-I genotyped isolates also displayed a high rate of resistance to other classes of antibiotics, and they were characterized as multidrug-resistant (MDR) or extensively drug-resistant (XDR). Results indicate that the aminoglycoside-resistance genes are highly prevalent and could easily spread among P. aeruginosa strains.

TDP-43 Knockdown In Neuronal Vs Astrocytic Cell Lines Reveals Similarities And Differences In the Biological Functions Between These Two Cellular Contexts

2025-09-15T09:54:51+00:00

TAR DNA-binding protein 43 (TDP-43) is a ubiquitously expressed RNA/DNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, involved in multiple stages of RNA metabolism. Since its identification in 2006 as the principal pathological component of cytoplasmic inclusions in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), TDP-43 has become central to neurodegeneration research. While ALS was initially considered a motor neuron-specific disorder, mounting evidence implicates non-cell-autonomous mechanisms—particularly involving astrocytes—in disease onset and progression. These glial cells contribute to neurodegeneration via neuroinflammation, metabolic disruption, and excitotoxicity. To investigate the molecular consequences of TDP-43 loss of function, we performed RNA sequencing on human SH-SY5Y neuroblastoma and U87 glioma cell lines following TDP-43 knockdown, simulating neuronal and glial environments. Transcriptomic profiling revealed both shared and cell type-specific changes. Gene Ontology enrichment analysis highlighted dysregulation in pathways related to cell cycle control, DNA replication, and chromatin organization in both lines, suggesting convergent stress responses relevant to ALS pathology. Meanwhile, certain pathways—such as mitotic spindle assembly (SH-SY5Y) and DNA damage response (U87)—were uniquely affected. We identified several commonly deregulated genes with either concordant expression trends or divergent regulation between the two cell types, suggesting shared versus distinct adaptive responses. qRT-PCR validation confirmed the reliability of the transcriptomic data. Notably, many validated targets are involved in RNA processing, cytoskeletal dynamics, synaptic function, and stress responses. Altogether, our findings underscore the critical role of TDP-43 in maintaining transcriptomic stability and support a model where both neuronal and glial dysfunction contribute to ALS pathogenesis via overlapping yet distinct molecular mechanisms.