601. Genetic polymorphisms in homologous recombination repair genes in healthy Slovenian population and their influence on DNA damageKatja Goričar, Nina Erčulj, Maja Zadel, Vita Dolžan, 2012, original scientific article Abstract: Background. Homologous recombination (HR) repair is an important mechanism involved in repairing double-strand breaks in DNA and for maintaining genomic stability. Polymorphisms in genes coding for enzymes involved in this pathway may influence the ca pa city for DNA repair. The aim of this study was to select tag single nucleotide polymorphisms (SNPs) in specific genes involved in HR repair, to determine their allele frequencies in a healthy Slovenian population and their influence on DNA damage detected with comet assay. Materials and methods. In total 373 individuals were genotyped for nine tag SNPs in three genes: XRCC3 722C>T, XRCC3 -316A>G, RAD51 -98G>C, RAD51 -61G>T, RAD51 1 522T>G, NBS1 553G>C, NBS1 1197A>G, NBS1 37117C>T and NBS1 3474A>C using competitive allele-specific amplification (KASPar assay). Comet assay was performed in a subgroup of 26 individuals to determine the influence of selected SNPs on DNA damage. Results. We observed that age significantly affected genotype frequencies distribution of XRCC3 -316A>G (P = 0.039) in healthy male blood donors. XRCC3 722C>T (P = 0.005), RAD51 -61G>T IP = 0.023) and NBS1 553G>C (P = 0.008) had a statistically significant influence on DNA damage. Conclusions. XRCC3 722C> T, RAD51 -61 G> T and NBS 1 553G>C polymorphisms significantly affect the repa ir of damaged DNA and may be of clinical importance as they are common in Slovenian population.
Published in DiRROS: 22.03.2024; Views: 186; Downloads: 43
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608. Beta–gamma phase-amplitude coupling as a non-invasive biomarker for Parkinson’s diseas : insights from Electroencephalography studiesTisa Hodnik, Stiven Roytman, Nicolaas I. Bohnen, Uroš Marušič, 2024, review article Abstract: Phase-amplitude coupling (PAC) describes the interaction of two separate frequencies in which the lower frequency phase acts as a carrier frequency of the higher frequency amplitude. It is a means of carrying integrated streams of information between micro- and macroscale systems in the brain, allowing for coordinated activity of separate brain regions. A beta–gamma PAC increase over the sensorimotor cortex has been observed consistently in people with Parkinson’s disease (PD). Its cause is attributed to neural entrainment in the basal ganglia, caused by pathological degeneration characteristic of PD. Disruptions in this phenomenon in PD patients have been observed in the resting state as well as during movement recordings and have reliably distinguished patients from healthy participants. The changes can be detected non-invasively with the electroencephalogram (EEG). They correspond to the severity of the motor symptoms and the medication status of people with PD. Furthermore, a medication-induced decrease in PAC in PD correlates with the alleviation of motor symptoms measured by assessment scales. A beta–gamma PAC increase has, therefore, been explored as a possible means of quantifying motor pathology in PD. The application of this parameter to closed-loop deep brain stimulation could serve as a self-adaptation measure of such treatment, responding to fluctuations of motor symptom severity in PD. Furthermore, phase-dependent stimulation provides a new precise method for modulating PAC increases in the cortex. This review offers a comprehensive synthesis of the current EEG-based evidence on PAC fluctuations in PD, explores the potential practical utility of this biomarker, and provides recommendations for future research.
Keywords: neurodegenerative diseases, Parkinson’s disease, electroencephalography, phase-amplitude coupling
Published in DiRROS: 21.03.2024; Views: 227; Downloads: 98
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609. Human tooth pulp anatomy visualization by 3D magnetic resonance microscopyDušan Šušterčič, Igor Serša, 2012, original scientific article Abstract: Background. Precise assessment of dental pulp anatomy is of an extreme importance for a successful endodontic treatment. As standard radiographs of teeth provide very limited information on dental pulp anatomy, more capable methods are highly appreciated. One of these is 3D magnetic resonance (MR) microscopy of which diagnostic capabilities in terms of a better dental pulp anatomy assessment were evaluated in the study. Materials and methods. Twenty extracted human teeth were scanned on a 2.35 T MRI system for MR microscopy using the 3D spin-echo method that enabled image acquisition with isotropic resolution of 100 m. The 3D images were then post processed by ImageJ program(NIH) to obtain advanced volume rendered views of dental pulps. Results. MR microscopy at 2.35 T provided accurate data on dental pulp anatomyin vitro. The data were presented as a sequence of thin 2D slices through the pulp in various orientations or as volume rendered 3D images reconstructed form arbitrary view-points. Sequential 2D images enabled only anapproximate assessment of the pulp, while volume rendered 3D images were more precise in visualization of pulp anatomy and clearly showed pulp diverticles, number of pulp canals and root canal anastomosis. Conclusions. This in vitro study demonstrated that MR microscopy could provide very accurate 3D visualization of dental pulp anatomy. A possible future application of the method in vivo may be of a great importance for the endodontic treatment.
Published in DiRROS: 21.03.2024; Views: 166; Downloads: 51
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