Background: Tuberculosis (TB) and vitamin D deficiency remain major public health problems in Kazakhstan. Due to the high incidence of pulmonary tuberculosis in the country and based on the importance of vitamin D in the modulation of the immune response and the association of its deficiency with many health conditions, the aim of our research was to study the vitamin D status, VDR and TLR gene polymorphisms, and pulmonary tuberculosis epidemiology in Kazakhstan. Methods: A case-control study included 411 individuals diagnosed with pulmonary TB and 686 controls with no family history of pulmonary tuberculosis. Concentrations of serum vitamin D (25-(OH)D) levels were measured by electrochemiluminescence immunoassay. The gene polymorphisms were determined by real-time polymerase chain reaction (PCR) allelic discrimination assay using TaqMan probes. The association between the risk of pulmonary TB and polymorphisms was evaluated using multimodal logistic regression and assessed with the ORs, corresponding to 95% Cis, and the significance level was determined as p < 0.05. Results: 1097 individuals were recruited from 3 different regions of Kazakhstan. Biochemical data showed vitamin D deficiency (25-(OH)D < 20 ng/mL) was present in both groups, with the case group accounting for almost 95% and 43.7% in controls. Epidemiological data revealed that socioeconomic factors such as BMI < 25 kg/m² (p < 0.001), employment (p < 0.001), diabetes (p < 0.001), and vitamin D deficiency (p < 0.001) were statistically different between case and control groups. Logistic regression analysis, adjusted by sex, age, BMI, residence, employment, smoking, alcohol consumption, and diabetes, showed that T/T polymorphism of the VDR gene (rs1544410, OR = 1.97, 95% CI: 1.04–3.72, p = 0.03) and A/A polymorphism of the TLR8 gene (rs3764880, OR = 2.44, 95% CI: 1.20–4.98, p = 0.01) were associated with a high risk of developing pulmonary tuberculosis. Conclusions: Vitamin D deficiency remains prevalent in our study cohort and is associated with TB progression. Socioeconomic determinants such as unemployment, BMI under 25 kg/m², and diabetes are the main risk factors for the development of pulmonary TB in our study. A/A polymorphism of TLR8 (rs3764880) and T/T polymorphism (BsmI, rs1544410) of VDR genes may act as biomarkers for pulmonary tuberculosis in the Kazakh population.

Tuberculosis is a major health problem in many countries, including Kazakhstan. Host genetics can affect TB risk, and epidemiological and social factors may contribute to disease progression. Due to the high incidence of pulmonary tuberculosis in the country, our research aimed to study the epidemiological and genetic aspects of pulmonary tuberculosis in Kazakhstan. 1026 participants of Central Asian origin were recruited in the study: 342 individuals diagnosed with active PTB, 342 household contacts, and 342 controls without a family history of TB. Genetic polymorphisms of selected genes were determined by real-time polymerase chain reaction. The association between the risk of pulmonary TB and polymorphisms was evaluated using logistic regression and assessed with the ORs and their corresponding 95 % CIs, and the significance level was determined as p < 0.05. Epidemiological data revealed that underweight BMI (χ² = 89.97, p < 0.001), employment (χ² = 39.28, p < 0.001), and diabetes (χ² = 12.38, p < 0.001) showed a significant association with PTB. A/T polymorphism of the IFG gene showed a lower risk, and A/A polymorphism showed an increased risk of susceptibility to TB. A/A polymorphism of the IFG gene was associated with an almost 3-fold increased risk of PTB, and A/T polymorphism of the IFG gene was associated with a decreased risk of PTB (OR = 0.67, 95 % CI = 0.49-0.92, p = 0.01). The analysis revealed a decreased risk of PTB for A/A polymorphism of the VDR ApaI (OR = 0.67, 95 % CI = 0.46-0.97, p < 0.05). A/A polymorphism of the TLR8 gene was associated with a 1.5-fold increased risk of PTB (OR = 1.53, 95 % CI = 1.00-2.33, p < 0.05). Results showed that gender, employment, underweight BMI and diabetes are associated with PTB incidence in our study cohort. The A/A genotype of the IFG (rs2430561) and an A/A genotype of the TLR8 (rs3764880) genes were associated with an increased risk of PTB. A/T polymorphism of the IFG (rs2430561) and A/A polymorphism of the VDR ApaI were associated with a decreased risk of PTB.

Background/Objectives: We aimed to investigate the association between VDR gene variants and vitamin D levels in elite male power athletes of Kazakhstan. Methods: We recruited 92 elite male power athletes of Kazakhstan. Concentrations of serum 25(OH)D were measured with the Access 25(OH) Vitamin D Total Assay on the Unicel Dxl 800 Access Immunoassay System. Gene polymorphisms were determined by a real-time polymerase chain reaction (RT-PCR) allelic discrimination assay using TaqMan™ probes. Results: Vitamin D insufficiency was registered in 63% of athletes. Age (χ² = 6.83, p < 0.01), BMI (χ² = 6.83, p < 0.01), and sport experience (χ² = 4.44, p < 0.04) showed a statistically significant association with vitamin D insufficiency and deficiency (age, χ² = 7.93, p < 0.01; BMI, χ² = 5.11, p < 0.03; sport experience, χ² = 6.19, p = 0.01). The A/A genotype of the VDR FokI polymorphism (rs2228570) showed a strong correlation with vitamin D insufficiency (G/G-G/A vs. A/A, OR = 9.25, 95% CI = 2.01–42.51, p < 0.01) but not deficiency. Conclusions: Our study reveals a significant prevalence of vitamin D insufficiency and deficiency among elite male power athletes of Kazakhstan. Age, BMI, and sport experience are essential factors in developing personalized strategies to address vitamin D insufficiency. The A/A genotype of the VDR FokI polymorphism can be used as a potential biomarker for vitamin D inadequacy in elite male power athletes of Kazakhstan.

Athletes carry an increased risk of cardiovascular (CV) conditions. Due to the relatively high loads and intensity of the training process, athletes’ CV systems undergo various adaptations, which can combine in the future and provoke unexpected outcomes. Most CV screening protocols have several successive steps. The aim of our study was to perform a cardiological functional assessment of the National Olympic Team of Kazakhstan via several noninvasive protocols to close the gaps between the approaches and collect solid data for the prevention of sudden cardiac death (SCD) incidence among Kazakhstani athletes. Methods: The methods used in this study were 12-lead resting electrocardiography (ECG), echocardiography, cardiointervalography, cardiopulmonary exercise testing (CPET), and HyperQ stress testing. Results: One case was detected via 12-lead resting ECG. Another case of the slowdown of the heart rate (HR) recovery was detected via cardiointervalography with no clinical signs and normal ECG. The HyperQ stress testing of the women’s basketball team detected a positive result in four leads in one athlete. Conclusion: Our results demonstrate that the CV systems of athletes require the implementation of several diagnostic methods in rest and stress conditions for more precise evaluation, with each of the methods fulfilling the whole picture for the prevention of such tragic events as sudden cardiac death and sudden cardiac arrest.

Mitochondria, commonly known as the cell’s power generator, carry out their primary function through oxidative phosphorylation (OXPHOS), a process that produces ATP, the main energy source of the cell and the only cell organelles with their own mitochondrial DNA. Any genetic alterations in DNA sequences that encode mitochondrial structural or functional proteins may cause mitochondrial disorders. Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare autosomal recessive mitochondrial disorder caused by homozygous or biallelic pathogenic variants in the IBA57 gene. In the current study, we present a case report on prenatal genetic testing for multiple mitochondrial dysfunction syndrome (MMDS) type 3 caused by the IBA57 gene to highlight the importance of prenatal diagnostics for disease prognosis and treatment, appropriate genetic counselling, and informed reproductive decision-making. We recruited a 27-year-old G2P1001 at 22 weeks’ gestation with MMDS3 in family history, confirmed by whole exome sequencing (WES) and also verified by Sanger sequencing in the IBA57 gene c.286T>C (NM_001010867.4, p.Tyr96His) and c.667C>G (NM_001010867.4, p.Arg223Gly) in the proband and parents. The ccfDNA genetic test revealed the absence of the heterozygous IBA57 gene variant at position c.286T>C (NM_001010867.4, p.Tyr96His), but the heterozygous IBA57 gene variant at position c.667C>G (NM_001010867.4, p.Arg223Gly) was detected. The child is a heterozygous carrier of the genetic variant of the IBA57 gene at position c.667C>G (NM_001010867.4, p.Arg223Gly). No specific treatment is required; observation by a pediatrician and medical and genetic counseling of the couple when planning the next pregnancy are recommended. The IBA57 gene-related MMDS3 can have a wide range of outcomes and consequences and may progress rapidly. Early awareness is crucial to prompt and proper administration. Our study reveals the importance of early prenatal genetic testing for IBA57-related MMDS3 for early diagnostics and consent decision-making.

Introduction. One of the global causes of mortality and disability is neurological disorders, which have a mostly genetic aetiology. Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by pathogenic mutations in the SMN1gene, leading to progressive degeneration of motor neurons. Advances in molecular genetics and the emergence of disease-modifying therapies have increased the importance of early diagnosis, including prenatal testing and carrier screening. Aim. To investigate the role of prenatal genetic testing in families at risk of SMA and to evaluate its importance for early diagnosis, assessment of disease severity, and informed reproductive decision-making. Materials and methods. Pregnant women at risk of SMA were recruited. Biomaterial (maternal blood and fetal samples via chorionic villus sampling or placentocentesis) was collected. DNA was extracted and analyzed by MLPA to assess copy number variation in the SMN1, SMN2, and NAIP genes. Variants identified by next-generation sequencing were confirmed by Sanger sequencing. Clinical and family histories were recorded for all participants. Discussion. Two clinical cases demonstrated the value of prenatal genetic testing. In one case, parents were carriers. Nevertheless, the fetus was unaffected. The pregnancy was recommended to continue. In the second case, a homozygous deletion of SMN1 was detected, leading to pregnancy termination after counseling. These findings highlight the critical role of prenatal diagnosis in identifying affected fetuses, guiding clinical decisions, and preventing recurrence. The variability of SMA severity, influenced by SMN2 copy number, further emphasizes the need for comprehensive molecular analysis. Conclusion. Prenatal diagnosis of SMA is an essential tool in high-risk families, enabling early detection, accurate risk assessment, and informed decision-making. Implementation of genetic screening programs and counseling significantly improves clinical management and helps reduce the burden of this severe hereditary disease. Актуальность. Одной из глобальных причин смертности и инвалидности являются неврологические заболевания, большинство из которых имеют генетическую этиологию. Спинальная мышечная атрофия (СМА) — одно из наиболее распространённых аутосомно-рецессивных нервно-мышечных заболеваний, обусловленное патогенными вариантами гена SMN1 и характеризующееся прогрессирующей дегенерацией мотонейронов. Развитие молекулярной генетики и появление модифицирующих течение заболевания терапий повысили значимость ранней диагностики, включая пренатальное тестирование и скрининг носительства. Цель. Изучить роль пренатального генетического тестирования в семьях с риском СМА и оценить его значение для ранней диагностики, определения тяжести заболевания и принятия информированных репродуктивных решений. Материалы и методы. В исследование были включены беременные женщины с риском СМА. Проводился забор биоматериала (материнская кровь и фетальные образцы, полученные с помощью биопсии хориона или плацентоцентеза). ДНК выделяли и анализировали методом MLPA для оценки вариаций числа копий генов SMN1, SMN2и NAIP. Варианты, выявленные с помощью секвенирования нового поколения, подтверждались методом секвенирования по Сэнгеру. Для всех участников собирались клинические и семейные анамнезы. Обсуждение. Два клинических случая продемонстрировали значимость пренатального генетического тестирования. В первом случае оба родителя являлись носителями, однако мутации и делеции у плода выялены не были, в связи с чем было рекомендовано продолжение беременности. Во втором случае была выявлена гомозиготная делеция гена SMN1, что после консультирования привело к прерыванию беременности. Эти результаты подчеркивают ключевую роль пренатальной диагностики в выявлении поражённых плодов, принятии клинических решений и предотвращении повторных случаев заболевания. Вариабельность тяжести СМА, зависящая от числа копий SMN2, дополнительно подчёркивает необходимость комплексного молекулярного анализа. Вывод. Пренатальная диагностика СМА является важным инструментом в семьях высокого риска, обеспечивая раннее выявление, точную оценку...