GMF Biologinių sistemų ir genetinių tyrimų institutas (12.02)

Age-related macular degeneration (AMD) is a complex retinal disease influenced by genetic and metabolic factors. Genetic variants impact disease susceptibility, while alterations in amino acid and purine metabolism are involved in AMD development. This study aimed to examine the association between the COL2A1 rs1635529 polymorphism and AMD, as well as its relation to specific metabolites. The study comprised 919 participants: 261 with early AMD, 229 with exudative AMD, and 429 controls. DNA was extracted using the salting-out method, and genotyping was performed using real-time PCR. Metabolite levels were analysed with liquid chromatography–mass spectrometry. Statistical analysis was conducted using IBM SPSS Statistics 27.0. Logistic regression revealed that carriers of the GT + TT genotypes had a 1.63-fold higher risk of early AMD (p = 0.046). The T allele was also linked to a 1.67-fold elevated risk (p = 0.033). No significant associations were observed in exudative AMD. Furthermore, lower leucine levels were noted in exudative AMD patients, and inosine levels were reduced in GT genotype carriers within the early AMD group. The COL2A1 rs1635529 polymorphism showed a nominal association with early AMD, but not exudative AMD. Differences in leucine and inosine levels were observed, suggesting a potential link between genetic variation and metabolic alterations. These findings indicate possible involvement of collagen-related and metabolic pathways in early disease development; however, the results should be interpreted with caution and require validation in larger studies.

The survival and health of honey bee (Apis mellifera) colonies are critically influenced by genetic traits affecting their responses to pathogens and parasites. Hygienic behavior, which involves the detection and removal of diseased or mite-infested brood, has been associated with reduced vulnerability to harmful agents. This study investigates the relationship between specific genotypes and viral infection prevalence, focusing on single nucleotide polymorphism (SNP) 9–9224292, located within a genomic region linked to hygienic behavior. Our results reveal a significant association between this SNP and Deformed Wing Virus (DWV) prevalence, a pathogen predominantly transmitted by Varroa destructor mites. Colonies carrying the G/G genotype showed lower DWV prevalence compared to those with the A/A genotype. This association may reflect genetic variation linked to hygienic behavior, although the underlying mechanisms remain to be clarified. These findings highlight a link between genetic variation and DWV prevalence, providing a basis for future studies on honey bee resilience and the potential development of marker-assisted selection strategies.

Tikslas – pristatyti Lietuvos pirmos klasės mokinių augimo stebėsenos šeštojo etapo antropometrinių tyrimų rezultatus, lyginant juos tarp lyčių, skirtingų amžiaus grupių ir dešimties Lietuvos apskričių. Tyrimo medžiaga ir metodai. Nuo 2008 m. kas treji metai Lietuvos sveikatos mokslų universiteto Medicinos akademijos Sveikatos tyrimo instituto mokslininkai, dalyvaudami Pasaulio sveikatos organizacijos Europos vaikų nutukimo stebėsenos iniciatyvos projekte, organizuoja Lietuvos vaikų augimo stebėsenos (LVAS) tyrimą, kurio metu apklausia pirmokų tėvus, matuoja vaikų ūgį ir svorį. Tyrimas atliekamas laikantis tarptautinio protokolo ir metodikos, vykdomas visose dešimtyje Lietuvos apskričių atsitiktinės atrankos metodu pasirinktose mokyklose. Gavus mokyklų direktorių raštiškus sutikimus, dalyvauti tyrime kviečiamos visos pirmosios tų mokyklų klasės. Lietuvą reprezentuojanti pirmokų imtis kiekviename tyrimo etape yra pastovi – atrenkama 5 800 vaikų. 2023 m. stebėsenos tyrime dalyvavo 94 mokyklos, išmatuoti 3 182 pirmokai, kurių tėvai pasirašė informuoto asmens sutikimo formą (atsako dažnis 53 proc.). Tyrimus atliko apmokyta tyrėjų komanda. Remiantis ūgio ir svorio matavimais, buvo apskaičiuotas kiekvieno tiriamojo kūno masės indeksas (KMI). Mokiniai suskirstyti į KMI grupes pagal Tarptautinės kovos su nutukimu darbo grupės (angl. International Obesity Task Force, IOTF) standartus. Rezultatai. Per 15 stebėsenos metų padidėjo pirmokų ūgio, svorio ir KMI vidurkiai, labiausiai pakito ūgis. Kiek didesnė normalaus kūno svorio vaikų dalis nustatyta tarp septynmečių ir aštuonmečių berniukų, lyginant su mergaitėmis. Kas penktas berniukas ir kas ketvirta penkta mergaitė turėjo antsvorio, įskaitant nutukimą, tačiau, vertinant skirtingų amžiaus grupių berniukų ir mergaičių pasiskirstymą pagal KMI grupes, reikšmingų skirtumų nenustatyta. Pirmos klasės mokinių antsvorio ir nutukimo paplitimas statistiškai reikšmingai skiriasi tarp apskričių. Išvados. Stebėsenos šeštasis etapas atskleidžia neigiamas tendencijas: mažėja normalaus svorio ir didėja per didelį svorį turinčių pirmokų dalis.

This study examines five circulating microRNAs (miRNAs) (miR-29a, let-7i, miR-204, miR-142, and miR-328) potentially relevant to the diagnostic and/or prognostic significance of myopia. miRNA expression was analyzed using StepOnePlus™ RT-PCR. miRNA expression was evaluated in whole blood samples collected and stored using Tempus™ Blood RNA Tubes. The expression of five miRNAs was analyzed in 88 participants: 45 in the myopia group and 43 in the control (emmetropic) group. Heatmap analysis revealed differences in the expression patterns of miR-29a, let-7i, miR-204, and miR-142 when comparing individuals with myopia and controls. The intensity of miR-328 expression was similar between the myopia and control groups. A significant correlation was observed between miR-204 ΔCt and spherical equivalent. However, comparison of median values between different degrees of myopia and the control group did not reveal significant differences. The simultaneous evaluation of multiple circulating miRNAs may help to better understand biological processes associated with myopia.

The study analysed single nucleotide polymorphisms (SNP) of the growth hormone (GH) (GH1-exon 5, 2141C>G, GH2-exon 5, 2291A>C, GH3-intron 3, 1548C>T) and signal transducer and activator of transcription 5A (STAT5A) (exon 7, 6853C>T) in three beef cattle breeds (Angus, Charolais, and Limousin; n = 124), and their association with productivity traits. Significant associations were identified between the GH1 (2141C>G) polymorphism and traits like daily weight gain and carcass weight, with the CC genotype showing the most favourable effect. The AA genotype of the GH2 (2291A>C) polymorphism and the CC genotype of the GH3 (1548C>T) polymorphism were the most common and were associated with higher weight gain and improved carcass characteristics. For the STAT5 gene, the CC genotype also demonstrated a significant positive association with productivity traits. These findings highlight the potential utility of these polymorphisms as genetic markers for beef cattle selection. This study is the first to report on the frequency of these alleles and their associations with productivity traits in beef cattle raised in Lithuania.

Parazitologijos mokslas Lietuvoje turi ilgą ir reikšmingą istoriją, glaudžiai susijusią su šalies gamtos ypatumais, žemės ūkio tradicijomis ir visuomenės sveikatos poreikiais. Šiandienos pasaulyje, susiduriant su klimato kaita, globalizacija ir naujų infekcinių ligų atsiradimu, parazitologijos reikšmė Lietuvoje dar labiau padidėja. Klimato ir geografinės sąlygos sudaro palankias sąlygas veistis Įvairiems parazitams, plėstis parazitų pernešėjų arealams, o tai kelia naujus iššūkius visuomenės sveikatai ir biologinei Įvairovei. Parazitologijos studijų dalykas mūsų Universitete nuėjo ilgą evoliucijos kelią, keitėsi studijų programos, mokymo priemonės, gilėjo patirtis. Ši patirtis (buvusių ir esamų) Biologinių sistemų ir genetinių tyrimų instituto darbuotojų perduodama Jums, mieli skaitytojai. Mūsų parengta mokomoji knyga skiriama pirmojo kurso studentams, studijuojantiems biomedicinos mokslus - mediciną, odontologiją, burnos higieną, slaugą ir visuomenės sveikatą. Leidinyje pateikiamas parazitologijos kursas, apimantis svarbiausius žmogaus parazitus, jų morfologiją, sukeliamas ligas, diagnostikos principus ir profilaktikos priemones. Šias teorines žinias padės įtvirtinti praktikos darbai. Kiekvieno praktikos darbo pabaigoje pateikiami saviruošos klausimai, skirti suprasti ir Įsiminti praktikos darbų metu analizuojamus parazitus. Tikimės, kad šis leidinys bus naudingas ne tik pratybų metu, bet ir savarankiškai mokantis, ruošiantis atsiskaitymams arba rengiant baigiamuosius darbus.

Background/Objectives: The Lancet Commission proposes a new obesity definition that combines body mass index (BMI) with anthropometric measurements to distinguish adipose tissue excess more effectively. This study aims to determine the prevalence of obesity based on the new definition and to examine cardiometabolic risk factors and lifestyle habits across different obesity phenotypes in the urban population of Lithuania. Methods: This study was conducted among residents of Kaunas city from 2020 to 2024. A total of 3426 adults aged 25–69 years (57.1% of the random sample) were participated. Three individuals were excluded due to missing anthropometric data. Participants were categorized into three phenotypes: (1) no obesity (BMI < 30 kg/m2 and no or one elevated anthropometric measure, (2) anthropometric-only obesity (BMI < 30 kg/m2 and at least 2 elevated anthropometric measures), and (3) BMI-plus-anthropometric obesity (BMI ≥ 30 kg/m2 plus at least one elevated anthropometric measure or BMI ≥ 40 kg/m2). Standardized anthropometric, biochemical, and clinical measurements were collected, along with self-reported dietary habits and leisure-time physical activity. Results: Anthropometric-only obesity was highly prevalent, affecting 36.1% of males and 22.7% of females (p < 0.05). The prevalence of BMI-plus-anthropometric obesity was 24.1% among males and 21.4% among females. Individuals with anthropometric-only obesity had significantly higher odds of metabolic syndrome (OR 8.64; 95% CI 6.97–10.71), diabetes (OR 3.01; 95% CI 1.72–5.25), coronary heart disease (OR 1.48; 95% CI 1.12–1.97), and several lipid abnormalities compared with those without obesity. The highest cardiometabolic risk was observed in the BMI-plus-anthropometric obesity group. Greater adiposity was associated with higher intake of red meat, junk foods, and sugary drinks, while physical activity levels declined across obesity categories. Conclusions: Anthropometric-only obesity is a common and metabolically adverse phenotype that cannot be detected using BMI alone. A new obesity definition enhances identification of high-risk individuals and supports targeted prevention strategies.

This study further explored whether the length misperception induced by cross-shaped distractors, formed by two pairs of oppositely oriented Müller-Lyer wings, can be explained by the combined effects of the Müller-Lyer (MLI) and filled-space (FSI) geometric illusions of extent. During the psychophysical experiments, one pair of wings randomly altered luminance, while the other pair’s luminance stayed constant. Two distractor orientations were used: one with the constant-luminance wings on the right side of the cross, and the other with them on the left side. To independently evaluate the MLI under different luminance settings, in the first series of experiments two distracting crosses of identical orientation were attached to the lateral stimulus terminators. In the next four series, a single distracting cross with different orientations was attached to one lateral stimulus terminator, combining constant and background luminance in various ways. Applying particular algebraic operations (summation or subtraction) to the data from the experiments enabled us to distinguish the individual effects of two illusion components. These effects are consistent with an analytical interpretation derived from earlier quantitative models of the visual mechanisms underlying the MLI and FSI. A deeper theoretical examination of the model resulted in a proposed revised scheme for the potential merging of MLI and FSI mechanisms, linked to identical neural summation areas at the same stage of visual processing. It was demonstrated that the theoretical calculations accurately fit the experimental curves for all stimulus variations. This provides strong evidence that the joint effects of the MLI and FSI are among the primary factors influencing the characteristics of the perceptual phenomenon studied.

This study examined the accuracy of locating the geometric center of visual stimuli, represented by different parts of the contour, using eye-tracking equipment. Two methods of stimulus representation were employed. In one, geometric shapes – rectangles, rhombuses, pentagons, and horizontal bars – were composed of lines 2 px thick (1 px = 1.8 arcmin) with a brightness of 300 cd/m ² on a grey background of 25 cd/m ². In the other, the shapes were marked by bright spots 5 px in diameter positioned at the corners. The experiment included three sizes of shapes: large (800 × 400px or 800 × 800 px), medium (400 × 400 px), and small (200 × 400 px or 200 × 200 px). Method Stimuli were presented singly in random order on a 117 cm diagonal, 1920 × 1080 px resolution “Samsung LE 46 B 652” screen. The participant was seated 1 m from the screen, with head movements stabilized using a mount. Eye movement tracking, stimulus presentation, and data collection were performed using the ViewPoint PC-60 system (Arrington Research, Inc.). After calibration, the participant viewed each stimulus for 6 seconds, during which their eye movements were tracked and displayed in real-time. Seven university students, with an average age of 26 years, took part in the study. Analysis Data from the final second of each of the 11 experimental runs were collected to estimate the perceived location of the centroid. Analyses and visualizations were carried out using Python (custom scripts) and MS Excel. According to the average data of all observers, differences in the representation of geometric shapes did not significantly affect the accuracy of center finding. For large rhombuses represented by lines, compared with same figures predicted by corners, the center difference in the X axis was 14 pixels, and along the Y axis – just 3 pixels; for medium shapes, the X difference was 44 pixels, Y – 13 pixels; for small shapes, the X difference was –31 pixels, Y – 4 pixels, for large rectangle X – 19, Y – -21; medium X – -11, Y – -3; small X – -10, Y – 40, for large pentagon X – 35, Y – 19; medium X – -21, Y – -8, small X – -8, Y – 3, for large horizontal bar X – -11, Y – 1, medium X – -82, Y – -10, small X – 43, Y – -3. The variations in perceived locations of the geometric centers of differently depicted shapes were not statistically significant.