Audronė Jakaitienė

AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes

BackgroundThe C34T genetic polymorphism (rs17602729) in the AMPD1 gene, encoding the skeletal muscle-specific isoform of adenosine monophosphate deaminase (AMPD1), is a common polymorphism among Caucasians that can impair exercise capacity. The aim of the present study was twofold: (1) to determine the C34T AMPD1 allele/genotype frequency distributions in Lithuanian athletes (n = 204, stratified into three groups: endurance, sprint/power and mixed) and compare them with the allele/genotype frequency distributions in randomly selected healthy Lithuanian non-athletes (n = 260) and (2) to compare common anthropometric measurements and physical performance phenotypes between the three groups of athletes depending on their AMPD1 genotype.ResultsThe results of our study indicate that the frequency of the AMPD1 TT genotype was 2.4% in the control group, while it was absent in the athlete group. There were significantly more sprint/power-orientated athletes with the CC genotype (86.3%) compared with the endurance-orientated athletes (72.9%), mixed athletes (67.1%), and controls (74.2%). We determined that the AMPD1 C34T polymorphism is not associated with aerobic muscle performance phenotype (VO2max). For CC genotype the short-term explosive muscle power value (based on Vertical Jump test) of athletes from the sprint/power group was significantly higher than that of the endurance group athletes (P < 0.05). The AMPD1 CC genotype is associated with anaerobic performance (Vertical Jump).ConclusionsThe AMPD1 C allele may help athletes to attain elite status in sprint/power-oriented sports, and the T allele is a factor unfavourable for athletics in sprint/power-oriented sports categories. Hence, the AMPD1 C allele can be regarded as a marker associated with the physical performance of sprint and power. Replications studies are required to confirm this association.

Insights Into de novo Mutation Variation in Lithuanian Exome

In the last decade, one of the biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely pathogenic variants identified by next-generation sequencing. This task is particularly complex because of our lack of knowledge regarding overall genome variation and pathogenicity of the variants. Therefore, obtaining sufficient information about genome variants in the general population is necessary as such data could be used for the interpretation of de novo mutations (DNMs) in the context of patient’s phenotype in cases of sporadic genetic disease. In this study, data from whole-exome sequencing of the general population in Lithuania were directly examined. In total, 84 (VarScan) and 95 (VarSeqTM) DNMs were identified and validated using different algorithms. Thirty-nine of these mutations were considered likely to be pathogenic based on gene function, evolutionary conservation, and mutation impact. The mutation rate estimated per position pair per generation was 2.74 × 10-8 [95% CI: 2.24 × 10-8–3.35 × 10-8] (VarScan) and 2.4 × 10-8 [95% CI: 1.96 × 10-8–2.99 × 10-8] (VarSeqTM), with 1.77 × 10-8 [95% CI: 6.03 × 10-9–5.2 × 10-8] de novo indels per position per generation. The rate of germline DNMs in the Lithuanian population and the effects of the genomic and epigenetic context on DNM formation were calculated for the first time in this study, providing a basis for further analysis of DNMs in individuals with genetic diseases. Considering these findings, additional studies in patient groups with genetic diseases with unclear etiology may facilitate our ability to distinguish certain pathogenic or adaptive DNMs from tolerated background DNMs and to reliably identify disease-causing DNMs by their properties through direct observation.

Potential to induce dentinal cracks during retreatment procedures of teeth treated with ‘‘Russian red’’: An ex vivo study

OBJECTIVE The aim of this study was to compare the impact of treatment procedures on roots previously treated with resorcinol-formaldehyde resin and analyze the effectiveness of dye and magnification for the detection of dentin cracks. MATERIALS AND METHODS Distal roots of 80 permanent first mandibular molars with a single canal were sectioned at 3mm and 9mm from the anatomical apex. Two groups were formed according to the method used for root canal penetration: group 1 (K-file and Pro Taper instruments) and group 2 (Ultrasound with Pro Ultra and Pro Taper files). Before and after the completion of procedures, photographs of the roots were taken for examination for cracks or/and infraction lines with two levels of magnification and with or without a dye. RESULTS In groups 1 and 2, either with dye or without it, there were statistically significant differences (P<0.001) with more fractures observed in the coronal than in the apical part of specimens. Statistically significant proportional differences regarding the location of fractures were observed at both magnifications. When the dye was used, there were no statistically significant differences between the two magnifications in the detection of cracks. In the specimens where the dye was not used, differences between the groups were statistically significant at both magnifications with more complete and intra-dental fractures observed in group 2. CONCLUSIONS Retreatment methods had a damaging effect on the root dentin of teeth previously treated with resorcinol-formaldehyde resin. At magnification ×16, the efficacy of using the dye for the detection of cracks was higher than detection without the dye.

Heterogeneity of nutritional habits of Lithuanian ethnolinguistic groups: population-based study

Background. Lithuania is a Northern European country consisting of two main ethnolinguistic groups: Samogitians and Highlanders. The objective of the paper is to investigate differences in nutritional habits of 18–65-year-old Lithuanians living in different ethnolinguistic regions. Materials and methods. A representative, population-based, random sample of the 18–65-year-old ethnic Lithuanian population was interviewed from 17 December 2008 to 20 May 2013. Lithuanians living in their ethnolinguistic region for at least three generations were included (n = 1,133). We analysed responses to 12 questions about nutritional habits of respondents. For the univariate analysis, we applied the chi-squared test. For the clusterisation of the survey questions, we employed a multiple correspondence analysis (MCA). Results. Comparing Samogitians’ and Highlanders’ responses according to their gender, education, and place of residence, we observed more often significant differences (p < 0.05) for the urban population, respondents without higher education, and women. The nutrition of Highlanders was more consistent with national and WHO nutritional recommendations. Significant differences were obtained in the consumption of fish (p = 1.9 · 10–12), milk (p = 1.8 · 10–4) and grain products (p = 0.01). MCA revealed that all questions fall into three groups with a different composition for Samogitians and Highlanders. We failed to demonstrate the impact of different nutritional habits on the body mass index. Conclusions. According to the univariate and multivariate analysis, the nutritional habits of Lithuanian ethnolinguistic regions are heterogeneous. Dependency on an ethnolinguistic region might be considered an important factor for the preparation of appropriate health and nutrition education and disease prevention programmes. The issue of excess weight remains equally important for both ethnolinguistic groups.

Prevalence of Metabolic Syndrome in Patients with Uric Acid and Calcium–based Kidney Stones

The aim of the study was to investigate the prevalence of metabolic syndrome in patients with uric acid and calcium–based kidney stones and to investigate the relationship between metabolic syndrome and type of kidney stone using infrared spectroscopy to evaluate the chemical composition of kidney stones Sixty patients with urolithiasis were examined. Metabolic syndrome was diagnosed according to clinical and laboratory criteria. Weight, height, body mass index, waist circumference, and blood pressure of patients were measured. Blood tests were performed. Concentrations of total cholesterol, low density lipoprotein cholesterol, high density lipoprotein cholesterol, triglycerides, glucose and uric acid in blood, were analyzed. The kidney stones of patients were removed and the composition of each kidney stone was analyzed using Fourier transform infrared spectroscopy. Metabolic syndrome was diagnosed in 55% of the patients; 86.7% of patients with uric acid (UA) kidney stones and 44.4% of patients with calcium (Ca) based stones had metabolic syndrome. All patients diagnosed with metabolic syndrome were overweight or obese. Even though there were no statistically significant differences observed concerning the anthropometrical measures and arterial blood pressure (BP) between the UA stone formers and Ca–based stone formers, the results show a trend that failed to reach significance: higher waist size, BMI and arterial BP means in the group of patients with UA stones than in the patients with Ca–based stones. No statistically significant differences in lipid profile between the groups were found. Concentration of UA in blood serum was significantly higher in patients with UA kidney stones than it was in patients with Ca–based kidney stones. Significant positive correlation between triglycerides and serum UA concentrations, as well as body mass index and serum UA concentration, and negative correlation between concentrations of high-density lipoprotein cholesterol and UA was found. Conclusion: Metabolic syndrome was more prevalent in patients with uric acid stones than in the patients with calcium–based kidney stones, even though this relationship was not statistically significant, most likely because of the limited number of patients investigated.