imagine (Institute of molecular genetics and genetic engineering)
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A 3D in vitro bone model based on biomimetic scaffolds ond perfusion bioreactor: applications in tumor and bone tissue engineering
No full textOnline Abstract Book: Goodbye Flat Biology: Next Generation Cancer Models, Berlin, Germany, 10-12 October, 202
Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy
Get PDFConsidering the substantial impact of genetic therapies for spinal muscular atrophy (SMA), longitudinal
follow-up of patients undergoing treatment is crucial to effectively monitor treatment response. While
functional rating scales are commonly used as primary outcome measures, they may not fully capture all
the therapeutic benefits. To address this limitation, the phosphorylated neurofilament heavy chain (pNFH)
protein has emerged as a promising biomarker for evaluating treatment response. pNF-H is a neuron-
specific filament that exhibits increased levels in the cerebrospinal fluid (CSF) and plasma in the
presence of neuronal degeneration. Our study includes individuals treated with Nusinersen (CSF and
plasma samples) and Risdiplam (plasma), as well as age- and sex-matched control subjects (CSF and
plasma). By examining the dynamics of pNF-H levels in these groups, we sought to identify significant
differences indicative of treatment response. Before treatment, SMA individuals typically exhibit higher
levels of pNF-H compared to non-SMA individuals. Elevated levels of pNF-H are associated with more
severe clinical manifestations of the disease. During Nusinersen treatment, a notable decline in pNF-H
levels during the first 2 months can be observed. Current findings suggest that genetic therapies have
a notable impact on reducing pNF-H levels over time. By examining the changes in pNF-H levels, our
study offers valuable insights into the underlying biochemical alterations associated with these therapies.
Furthermore, it supports the use of pNF-H as a complementary measure to functional rating scales and
as a potential biomarker for evaluating treatment effectiveness and monitoring disease progression in
SMA
Genetic predisposition of suicidal behavior: variants in GRIN2B, GABRG2, and ODC1 genes in suicide attempt and completed suicide In two Balkan populations
Get PDFIntroduction: Suicidal behavior ranges between suicidal ideation and completed suicide. Completed
suicide accounts for over 700,000 deaths worldwide, while attempted suicide is 20 times more frequent.
Genetic background is an important factor contributing to suicidal behavior, and candidate genes linked
to several neurotransmitter systems have been investigated. Alternations in glutamate, γ-aminobutyric
acid (GABA) and polyamine systems have been detected in suicidal behavior. Our aim was to differentiate
genetic predispositions underlying two different types of suicidal behavior, attempted and completed
suicide, in two Balkan populations.
Methods: The study sample included 173 suicide attempters with comorbid psychiatric disorders (major
depressive disorder, bipolar affective disorder, or schizophrenia), 216 non-suicidal psychiatric patients and
172 healthy controls from Serbia, and 333 suicide completers and 356 non-suicidal autopsy controls
from Slovenia. Variants in the genes GRIN2B (rs2268115 and rs220557), GABRG2 (rs424740), and ODC1
(rs1049500 and rs2302614) were genotyped by TaqMan assays and analyzed using PLINK.
Results: The CA genotype of rs220557 in the GRIN2B gene increases the risk for completed suicide
(OR=1.51, p=0.021), and particularly violent suicide (OR=1.49, p=0.037), compared to controls. In the
ODC1 gene, the CA genotype of rs2302614 decreases the risk for completed suicide compared to suicide
attempt (OR=0.32, p=0.012). Marginally, the AC haplotype for variants rs1049500-rs2302614 in the ODC1
gene decreases the risk for completed suicide compared to suicide attempt (OR=0.50, p=0.052).
Conclusion: Specific genetic variants of the glutamate and the polyamine systems are differently distributed
among diverse suicidal phenotypes, thus providing further information on the implication of
these systems in suicidality
Biological degradation of recycled jute used as an adsorbent for crude oil
Get PDFIn the fight against oil and it's derivatives pollution, adsorbents play a crucial role in
efficient removal of these harmful substances from the environment. Jute, a natural plant
fiber, is gaining increasing attention as a potential adsorbent for oil due to high porosity,
good physical and chemical characteristics, biodegradability, and sustainability [1]. The
aim of this study was to investigate the biodegradable properties of jute used as an
absorbent for oil in a liquid medium and model compost. Materials and methods: The
study monitored weight loss in oil-contaminated jute (NWSO) and compared it with
control jute (NWS). Morphological changes in jute fibers were observed with optical
microscopy and SEM analysis. Gas chromatography (GC-MS) was used for the
detection of hydrocarbons in degraded jute. Enzymatic activity changes in compost soil
were tracked. Bacterial strain isolation was done to assess growth on pure and oilcontaminated
jute, with subsequent taxonomic identification. Results: NWSO samples
were degraded more efficiently compared to clean jute with a weight reduction of 20%
in NWSO compared to 5% in NWS. Microscopic and SEM analyses confirmed
morphological changes in jute fibers after degradation. A decrease in hydrocarbon
concentration after degradation was shown. Enzymatic activity tests provided additional
insights into the composting process. The study also identified diverse bacterial strains
capable of oil degradation, primarily belonging to Bacillus and Microbacterium genera.
Conclusion: The study demonstrates the superior biodegradation of NWSO compared
to NWS. The promising role of jute in sustainable bioremediation strategies leading to
reduced harm from oil pollution has been demonstrated.Book of Abstracts: 9th Conference of Young Chemists of Serbia Novi Sad, 4th November 202
The Genus Heterogynis Rambur, 1866 (Heterogynidae, Lepidoptera): Congruence of Molecular, Morphological and Morphometric Evidence Reveal New Species in Serbia
Get PDFThe Heterogynidae are a small family of moths consisting of a single genus Heterogynis and sixteen described species distributed in the Mediterranean region. A species new to science, Heterogynis serbica sp. nov., is described from the locality of Srebrenac, Mt. Kopaonik, Republic of Serbia, Balkan Peninsula, by applying an integrative taxonomic approach using morpho-anatomical characteristics, wing morphometics and DNA barcoding. Male genitalia, scanning electron micrographs of adult male head anatomy, abdominal tergites/sternites, cocoons and habitats of the closely related species H. serbica sp. nov. and H. zikici are discussed and illustrated. Photographs of adult males and females, cocoons, plants in which the cocoons were found and habitats are shown. Importantly, marked differences in genital structure and other morphological characters were noted. These differences were confirmed with forewing morphometrics and COI-based DNA barcoding results. Additionally, DNA barcodes for H. serbica sp. nov. and H. zikici were compared against previously available data for the genus to evaluate the phylogenetic relationships. We conclude that deep, previously unknown and unexpected intrageneric morphological diversity exists in the genus Heterogynis.The authors wish to express their gratitude to Goran Anaˇckov, a Director of The Department of Biology and Ecology, Faculty of Sciences, University of Novi Sad, for his support; he enabled the usage of the equipment in the University Center for Electronic Microscopy (UCEM-NS), at the University of Novi Sad for this research. The authors are also very grateful to the Director and the Executive Director of the National Park “Kopaonik” Bojan Milovanovi´c and Predrag Šumarac for their long-term cooperation and support in this research. Finally, the authors deeply appreciate the support from Vladimir Žiki´c, from the University of Niš, Faculty of Sciences and Mathematics, Department of Biology and Ecology, who has kindly provided the analysed samples of H. zikici
Crosstalk between SOX Genes and Long Non-Coding RNAs in Glioblastoma
Get PDFGlioblastoma (GBM) continues to be the most devastating primary brain malignancy. Despite significant advancements in understanding basic GBM biology and enormous efforts in developing new therapeutic approaches, the prognosis for most GBM patients remains poor with a median survival time of 15 months. Recently, the interplay between the SOX (SRY-related HMG-box) genes and lncRNAs (long non-coding RNAs) has become the focus of GBM research. Both classes of molecules have an aberrant expression in GBM and play essential roles in tumor initiation, progression, therapy resistance, and recurrence. In GBM, SOX and lncRNAs crosstalk through numerous functional axes, some of which are part of the complex transcriptional and epigenetic regulatory mechanisms. This review provides a systematic summary of current literature data on the complex interplay between SOX genes and lncRNAs and represents an effort to underscore the effects of SOX/lncRNA crosstalk on the malignant properties of GBM cells. Furthermore, we highlight the significance of this crosstalk in searching for new biomarkers and therapeutic approaches in GBM treatment
The Role of SOX Transcription Factors in Ageing and Age-Related Diseases
Get PDFThe quest for eternal youth and immortality is as old as humankind. Ageing is an inevitable physiological process accompanied by many functional declines that are driving factors for age-related diseases. Stem cell exhaustion is one of the major hallmarks of ageing. The SOX transcription factors play well-known roles in self-renewal and differentiation of both embryonic and adult stem cells. As a consequence of ageing, the repertoire of adult stem cells present in various organs steadily declines, and their dysfunction/death could lead to reduced regenerative potential and development of age-related diseases. Thus, restoring the function of aged stem cells, inducing their regenerative potential, and slowing down the ageing process are critical for improving the health span and, consequently, the lifespan of humans. Reprograming factors, including SOX family members, emerge as crucial players in rejuvenation. This review focuses on the roles of SOX transcription factors in stem cell exhaustion and age-related diseases, including neurodegenerative diseases, visual deterioration, chronic obstructive pulmonary disease, osteoporosis, and age-related cancers. A better understanding of the molecular mechanisms of ageing and the roles of SOX transcription factors in this process could open new avenues for developing novel strategies that will delay ageing and prevent age-related diseases
Targeting outer membrane protein A (OmpA) – inhibitory effect of 2′-hydroxychalcone derivatives on Acinetobacter baumannii and Candida albicans dual-species biofilm formation
No full textBiofilm production facilitates microbial colonization of wounds and catheters. Acinetobacter baumannii produces high levels of biofilm and causes difficult-to-treat nosocomial infections. Candida albicans is another strong biofilm producer which may facilitate A. baumannii adhesion by providing hyphae-mediated OmpA-binding sites. Here we tested the potential of 2′-hydroxychalcones to inhibit dual-species biofilm production of A. baumannii and Candida spp., and further predicted the mechanism of structure-related difference in activity. The results suggest that 2′-hydroxychalcones exhibit potent activity against Candida spp./A. baumannii dual-species biofilm production. Particularly active was trifluoromethyl-substituted derivative (p-CF3), which decreased C. albicans/A. baumannii biomass produced on vein-indwelling parts of the central venous catheterization set by up to 99%. Further, higher OmpA-binding affinity was also calculated for p-CF3, which together with demonstrated significant ompA-downregulating activity, suggests that superior antibiofilm activity of this chalcone against the tested dual-species community of A. baumannii is mediated through the OmpA
Improving the diagnostics of rare lung disorders using a uniquely designed pipeline for analysis of ngs data
Get PDFRare lung diseases (RLDs) are a group of diseases that individually affect one in 2,000 people, with an
estimate that about 80% of RLDs have a genetic origin. Despite the variations among RLDs in clinical
characteristics and manifestations, most of these diseases similarly damage the lungs, making diagnosis
difficult. The utility of NGS technology in RLDs for diagnostic purposes allows a better understanding
of the genetic background, however, the identification and classification of disease-causing variants are
challenging. Further, numerous VUS (variants of uncertain significance) that cannot be precisely
defined and classified are produced. The main goal of this study was to create a unique guideline that
will enable the standardization of the assessment of novel genetic variants in RLDs causative genes.
The designed pipeline consists of three main steps: (1) sequencing, detection, and identification of
genes/variants, (2) classification of variants, and (3) characterization of variants using in silico
structural and functional analysis. The pipeline validation was performed through the analysis of
variants detected in a disease-causing and candidate genes of one of the RLDSs, and detected VUS
variants have gained diagnostic significance. The application of this pipeline resulted in the
identification and classification of novel variants, through analysis at the transcriptional, translational,
and posttranslational levels, and led to accurate diagnosis.Book of abstracts: International Conference of Biochemists and Molecular Biologists in Bosnia and Herzegovina - ABMBBIH May, 202
Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia
Get PDFPrimary ciliary dyskinesia (PCD) is a rare motor ciliopathy, which predominantly affects the lungs and
reproductive organs. PCD has a heterogeneous genetic basis, and it is necessary to analyze more than
40 causative genes in order to establish a precise diagnosis, which is essential for optimal treatment and
adequate genetic counseling. Five patients suspected of PCD were analyzed using next-generation
sequencing (NGS). The pathogenicity of the genetic variants was tested by in silico, qRT-PCR and
Western blot methods. Two newly discovered variants p.N450Lfs*6 and p.D562N in the DNAI1 gene
were detected in one patient suspected of PCD. The results of in silico prediction showed that the
p.N450Lfs*6 variant affects the structure of the 3D model of the protein, abolishes ligand binding sites
and post-translational modifications, thereby disrupting protein-protein interactions (PPI). The
p.D562N variant has no effect on the 3D structure of the protein, but affects the ligand binding site and
is located in the WD-40 domain, which most likely disrupts PPI. The results of the qRT-PCR method
showed a decreased expression level of DNAI1 mRNA by about 50% in the patient compared to the
control group, while Western blot analysis showed the presence of two protein products (699 ak and
455 ak). By analyzing the obtained results, it was concluded that the changes p.N450Lfs*6 and
p.D562N affect the length and quantity of the DNAI1 protein, leading to the loss of protein function
and are responsible for the occurrence of primary ciliary dyskinesia in the analyzed patient