Search Results (118)

Background: Physical conditioning is essential to meet the operational demands of military environments. However, high-intensity exercise provokes muscle microinjuries resulting in exercise-induced muscle damage. This condition is typically monitored using serum biomarkers such as creatine kinase (CK), myoglobin (MYO), and lactate dehydrogenase (LDH). Nevertheless, individual variability and genetic factors complicate the interpretation. In this context, the rs1815739 variant (ACTN3), the most common variant related to exercise phenotypes, hypothetically could interfere with the muscle physiological response. This study aimed to evaluate the kinetics of serum biomarkers during a high-intensity activity and their potential association with rs1815739 polymorphism. Materials and Methods: 32 male cadets were selected during the Army Paratrooper Course. Serum was obtained at six distinct moments while they performed regular course tests and recovery time. Borg scale was assessed in 2 moments (~11 and ~17). Results: Serum levels of CK, CK-MB, MYO, and LDH significantly increase after exercise, proportionally to Borg’s level, following the applicability of longitudinal studies to understand biomarker levels in response to exercise. R allele carriers (ACTN3) were only slightly associated with greater levels of MYO and CK, mainly in relative kinetic levels, and especially at moments of greater physical demand/recovery. Although the ACTN3 was slightly related to different biomarker levels in our investigation, the success or healthiness in military activities is multifactorial and does not depend only on interindividual variability or physical capacity. Conclusions: Monitoring biomarkers and multiple genomic regions can generate more efficient exercise-related phenotype interventions. Full article

Podocytopathy, characterized by proteinuria, contributes significantly to kidney diseases, with hypertension playing a key role in damaging podocytes and the glomerular filtration barrier (GFB). The lack of functional in vitro models, however, impedes research and treatment development for hypertensive podocytopathy. We established a novel constant pressure-driven podocyte-on-chip model, utilizing our previously developed dynamic staining self-assembly cell array chip (SACA chip) and 3D printing. This platform features a differentiated podocyte monolayer under controlled hydrostatic pressures, mimicking the epithelial side of the GFB. Using this platform, we investigated mechanical force-dependent permeability to three sizes of fluorescent dextran under varying hydrostatic pressures, comparing the results with a puromycin aminonucleoside (PAN)-induced injury model. We observed that external pressures induced size-dependent permeability changes and altered cell morphology. Higher pressures led to greater macromolecule infiltration, especially for larger dextran (70 kDa, 500 kDa). Mature podocytes exhibited immediate, pressure-dependent cytoskeleton rearrangements, with better recovery at lower pressures (20 mmHg) but irreversible injury at higher pressures (40, 60 mmHg). These morphological changes were also corroborated by dynamic mRNA expression of cytoskeleton-associated proteins, Synaptopodin and ACTN4. This platform offers a promising in vitro tool for investigating the pathomechanisms of hypertension-induced podocytopathy, performing on-chip studies of the GFB, and conducting potential drug screening. Full article

Skeletal muscles, accounting for 40% of mammalian body mass, exhibit pronounced heterogeneity due to their distinct anatomical locations. Animal husbandry has focused excessively on longissimus dorsi (LDM) development while neglecting other muscles. In this study, we integrated Bulk RNA Sequencing (bulk RNA-seq) and Liquid Chromatography–Mass Spectrometry (LC-MS) analyses of Soleus (SOL), Gastrocnemius (GAS), and Psoas major muscles (PMM) across three key stages in Duroc pigs. We identified nine critical genes (S100A1, MBOAT2, CA3, GYG2, ACTN3, ENO3, SLC3A2, SLC16A10, and GAPDH) and eight metabolites potentially involved in regulating both skeletal muscle development and fiber-type transformation. The heterogeneity between SOL and GAS was low at birth but increased gradually during development. In contrast, PMM exhibited higher heterogeneity than SOL and GAS from birth. Notably, expression levels of MYH7, MYH1, and MYH4 displayed stage-specific and muscle type-dependent variations. Moreover, we observed a developmental shift from the MAPK signaling pathway (1–21 d) to the regulation of the actin cytoskeleton (21–120 d). Pairwise comparisons between the SOL, GAS, and PMM revealed that the signaling pathways were enriched in muscle fiber-type switching. Collectively, through the integration of bulk RNA-seq and LC-MS data, this study provides novel molecular breeding strategies for the genetic improvement of meat-producing animals. Full article

The TT genotype of the ACTN-3 polymorphism (rs1815739) has been previously associated with lower sprinting and jumping performance, higher frequency and severity of muscle injuries and eccentric muscle damage in professional football players. This study examined the influence of rs1815739 polymorphism on maximal running speed (MRS) during official matches in elite football players. MRS was collected, using a Global Position System (GPS) at high sampling frequencies (50 Hz), from 45 footballers of the same team during 26 official matches (707 match observations). A buccal swab was used to extract genomic DNA, and an RFLP PCR technique was used to determine the ACTN-3 genotype. The main finding of the present study was that CC players showed significantly higher MRS than TT players (CC = 33.1 ± 1.3 km·h⁻¹; CT = 32.7 ± 1.6 km·h⁻¹; TT = 31.5 ± 1.9 km·h⁻¹, p = 0.041). Moreover, the players harboring a copy of the C allele showed a trend toward higher MRS than TT genotype (CC + CT = 32.9 ± 1.5 km·h⁻¹ vs. TT = 31.5 ± 1.9 km·h⁻¹, p = 0.06). We found, for the first time, an association between the ACTN-3 polymorphism and match-play MRS in elite football players. Our results bring new knowledge to the literature regarding the advantage conferred by the C allele (CC and CT genotypes) of the ACTN-3 polymorphism on sprint performance in football providing perspectives for modulating the speed training program in relation to ACTN-3 genotypes, enhancing performance avoiding muscle lesions. Full article

Background/Objectives: This systematic review aimed to gather the most recent evidence regarding the link between genetic polymorphisms and physical performance in team sports, with a focus on the practical utility of this information for athlete selection, training personalization, and injury prevention. Methods: Sixteen studies published between 2018 and 2025 were analyzed and selected from six international databases, in accordance with the PRISMA guideline. Only English-language studies were included, which evaluated active athletes in team sports and investigated associations between genetic variations, such as Actinin Alpha 3 (ACTN3 R577X), Angiotensin I Converting Enzyme (ACE I/D), Peroxisome Proliferator-Activated Receptor Alpha (PPARA), Interleukin 6 (IL6), and Nitric Oxide Synthase 3 (NOS3), and physical performance parameters. The methodological quality of the studies was assessed using the Q-Genie tool, with all studies scoring over 45 across all 11 items, indicating high quality. Results: The ACTN3 and ACE genes stood out due to their consistent association with traits such as strength, speed, endurance, and recovery capacity. Other genes, such as PPARA, Fatty Acid Amide Hydrolase (FAAH), Angiotensinogen (AGT), and NOS3, complemented this genetic profile by being involved in the regulation of energy metabolism and injury predisposition. An increasing number of studies have begun to adopt cumulative genotype scores, suggesting a shift from a monogenic approach to complex predictive models. Conclusions: The integration of genetic profiling into the evaluation and management of athletes in team sports is becoming increasingly relevant. Although current evidence supports the applicability of these markers, robust future research conducted under standardized conditions is necessary to validate their use in sports practice and to ensure sound ethical standards. Full article

Background: Muscle injuries pose a significant challenge in sports, leading to decreased performance and shortened career longevity. Individuals homozygous for the nonsense X allele of the ACTN3 rs1815739 (R577X) polymorphism, characterized by a complete absence of α-actinin-3, have been associated with reduced power performance and may have an increased injury risk. This study aimed to investigate the association between the ACTN3 R577X polymorphism and both volleyball player status and the risk of non-contact musculoskeletal injuries in female volleyball players. Methods: The study included 5382 Turkish and Russian subjects of European descent (187 professional volleyball players and 5195 controls), of whom 50 female players provided injury data. Sport-related injury information was obtained from medical records maintained by team physicians and physiotherapists. Results: A pooled analysis of the two cohorts demonstrated that the frequency of the ACTN3 X allele was significantly lower in volleyball players than in controls, with an odds ratio of 0.763 (95% CI: 0.61–0.95, p = 0.02). In the pre-specified recessive contrast (XX vs. RR + RX) among 50 players, exact methods indicated higher injury odds for the XX genotype (OR = 7.87, 95% CI: 0.94–374.58; p = 0.0366), which was classified as borderline/exploratory. Penalized (Firth) regression produced estimates of a similar magnitude after adjustment for age and playing position (adjusted OR = 5.92, 95% CI: 1.12–60.98), although confidence intervals remained wide. Conclusions: The ACTN3 X allele is underrepresented in professional volleyball players, and it is associated with an increased risk of muscle injury in female players. Full article

This research was carried out to assess the impact of daidzein supplementation on production performance, serum biochemical indexes, meat quality, and the transcriptome of the longissimus dorsi (LM) muscle in heat-stressed Jinjiang cattle. Twenty 20-month-old Jinjiang cattle (initial mean ± SE: 438 ± 34.6 kg of body weight) were randomly divided into two treatment groups (n = 10 per treatment): control treatment and daidzein treatment (1000 mg/kg concentrate). After a 100-day feeding trial (consisting of a 10-day adaptation period and a 90-day daidzein feeding period), blood and LM muscle samples were collected on day 100. Daidzein significantly increased the average daily dry matter intake (ADMI), the concentration of free fatty acid (FFA) and glutamic-pyruvic transaminase (ALT) in serum, and the marbling score of the LM muscle. Additionally, daidzein significantly decreased the concentration of total cholesterol (TC) and leptin in serum, along with the shear force and L* value of LM in heat-stressed Jinjiang cattle. The transcriptome analysis demonstrated that 238 differentially expressed genes (DEGs) were identified through differential expression analysis, among which 168 genes were downregulated and 70 genes were upregulated. The results of KEGG pathways showed that these DEGs were significantly enriched in pathways related to beef tenderness, including the FoxO signaling pathway, Notch signaling pathway, and regulation of the actin cytoskeleton. Daidzein significantly affected the candidate genes (FOSL1, DGKH, Gadd45G, GAL, SEMA3, TOB, FABP8, TRIB2, Nech1, and GSTA3) involved in adipocyte differentiation, as well as genes (CSTB and ACTN) related to connective tissue structure in heat-stressed Jinjiang cattle. Daidzein plays a positive role in relieving heat stress and improving beef quality in heat-stressed Jinjiang cattle. Full article

Background/Objectives: This meta-analytical review assesses the relationship between effect size and replication success in genetic studies of athletic performance, focusing on the ACTN3 and ACE polymorphisms across power- and endurance-based sports. The analysis revealed substantial heterogeneity in reported effect sizes (overall I² = 72.3%), indicating considerable variability between studies, likely influenced by differences in population genetics, study design, and sample size. Methods: For ACTN3, the pooled effect sizes were 1.40 (95% CI: 1.18–1.65) for power sports and 1.35 (95% CI: 1.12–1.58) for endurance sports. Although the difference between these estimates is small, it reached statistical significance (p = 0.0237), reflecting the large sample size, but it remains of limited practical and clinical significance. For the ACE polymorphism, effect sizes were similar in both endurance (ES = 1.22, 95% CI: 1.05–1.41) and power sports (ES = 1.20, 95% CI: 1.03–1.43), with overlapping confidence intervals, indicating no meaningful difference in association strength between sport types. Effect sizes were calculated as odds ratios (OR) with 95% confidence intervals for case–control designs, with standardized conversion protocols applied for alternative study designs reporting standardized mean differences or regression coefficients. Results: Publication bias was detected, particularly in smaller studies on ACTN3 and power sports (Egger’s test p = 0.007). The pooled effect of ACTN3 in power sports (OR 1.40, 95% CI: 1.18–1.65, 95% PI: 0.89–2.20) was adjusted to OR 1.32 (95% CI: 1.15–1.51) following trim-and-fill publication bias correction. The high degree of heterogeneity (I² = 72.3%) cautions against overgeneralization of the pooled results and highlights the need for careful interpretation, robust replication studies, and standardized methodologies. Conclusions: The findings emphasize that, while genetic markers such as ACTN3 and ACE are statistically associated with athletic performance, the magnitude of these associations is modest and should be interpreted conservatively. Methodological differences and publication bias continue to limit the reliability of the evidence. Future research should prioritize large, well-powered, and methodologically consistent studies—ideally genome-wide approaches—to better account for the polygenic and multifactorial nature of elite athletic ability. Full article

Exercise addiction is described in the literature as a compulsive behavior associated with adverse health symptoms. Currently, knowledge about the biological and social factors that trigger the development of this behavior is still lacking, and there are no published studies on genetic variants associated with the disorder. Because of this, we genotyped specific polymorphisms in the genes DRD1 (rs265981), DRD2 (rs1800497), BDNF (rs6265), HFE (rs1799945), ACTN3 (rs1815739), PPARA (rs4253778), PPARGC1A (rs8192678), and AMPD1 (rs17602729) to investigate whether they were associated with exercise addiction. In total, 469 men and women, comprising athletes and non-athletes between the ages of 18 and 50, were enrolled in the study. Each participant provided an oral swab sample for genetic analysis and completed the Negative Addiction Scale questionnaire that tests for physical exercise addiction. For the DRD2 polymorphism, there was a significant association of the GG genotype with asymptomatic participants and of the AA genotype with participants symptomatic for exercise addiction. Additionally, for the BDNF polymorphism, the CC genotype was associated with symptomatic participants, and the T allele was associated with asymptomatic individuals. However, all associations were found by evaluating the SNP individually, and this demonstrates the difficulty in studying variables related to behavioral phenotypes. Full article

Sarcopenia, the progressive loss of skeletal muscle mass and function with age, significantly contributes to frailty and mortality in older adults. Notably, muscles do not age uniformly—some retain structure and strength well into old age. This review explores the mechanisms underlying differential resistance to muscle aging, with a focus on sarcopenia-resistant muscles. We analyzed current literature across molecular biology, genetics, and physiology to identify key regulators of muscle preservation during aging. Special attention was given to muscle fiber types, mitochondrial function, neuromuscular junctions, and satellite cell activity. Muscles dominated by slow-twitch (type I) fibers—such as the soleus, diaphragm, and extraocular muscles—demonstrate enhanced resistance to sarcopenia. This resilience is linked to sustained oxidative metabolism, high mitochondrial density, robust antioxidant defenses, and preserved regenerative capacity. Key molecular pathways include mTOR, PGC-1α, and SIRT1/6, while genetic variants in ACTN3, MSTN, and FOXO3 contribute to interindividual differences. In contrast, fast-twitch muscles are more vulnerable due to lower oxidative capacity and satellite cell depletion. Unique innervation patterns and neurotrophic support further protect muscles like extraocular muscles from age-related atrophy. Resistance to sarcopenia is driven by a complex interplay of intrinsic and extrinsic factors. Understanding why specific muscles age more slowly provides insights into muscle resilience and suggests novel strategies for targeted prevention and therapy. Expanding research beyond traditionally studied muscles is essential to develop comprehensive interventions to preserve mobility and independence in aging populations. Full article

This review aims to provide a comprehensive framework for implementing precision sports medicine, integrating genetics, pharmacogenomics, digital health solutions, and multi-omics data. Literature review was conducted using MEDLINE, EMBASE, Web of Science, and Cochrane Library databases (January 2018–April 2024), focusing on precision medicine applications in sports medicine, utilizing key terms including “precision medicine”, “sports medicine”, “genetics”, and “multi-omics”, with forward and backward citation tracking. The review identified key gene variants affecting athletic performance: endurance (AMPD1, PPARGC1A), power (ACTN3, NOS3), strength (PPARG), and injury susceptibility (COL5A1, MMP3), while also examining inherited conditions like cardiomyopathies (MYH7, MYBPC3). Pharmacogenomic guidelines were established for optimizing common sports medications, including NSAIDs (CYP2C9), opioids (CYP2D6), and cardiovascular drugs (SLCO1B1, CYP2C19). Digital health technologies, including wearables and predictive analytics, showed potential for enhanced athlete monitoring and injury prevention, while multi-omics approaches integrated various molecular data to understand exercise capacity and injury predisposition, enabling personalized assessments, training regimens, and therapeutic interventions based on individual biomolecular profiles. This review provides sports medicine professionals with a framework to deliver personalized care tailored to each athlete’s unique profile, promising optimized performance, reduced injury risks, and improved recovery outcomes. Full article

Background: Decathlon is a multimodality sport that requires the combination of endurance, strength, speed, and agility. A polymorphism present in the gene encoding for alpha-actinin-3 (ACTN3) potentially influences sports performance, since this protein is a structural component of skeletal muscle contributing to muscle contraction effectiveness. Aim: To investigate whether the presence of the ACTN3 R577X polymorphism is associated with decathlon athletes’ performance in the different modalities of decathlon. Methods: Thirty-one male athletes from the Brazilian national federation of decathlon aged between 18 and 50 years were genotyped for the ACTN3 R577X polymorphism using real-time polymerase chain reaction (RT-PCR). The athletes’ latest decathlon performances were recorded over ten competitions. The Hardy–Weinberg equilibrium was verified. Pearson’s correlation coefficient was utilized to assess the relationship between the obtained sports performance (score) by event and sets of events (speed events, jumps, and throws) with significance considered at p < 0.05. Results: Strong and significant correlations were identified between the speed events, the jumping, and the launching performances. Among the athletes, the distribution of ACTN3 genotypes was as follows: R577R—51.6%, R577X—48.4%, and X577X—0%, indicating a complete absence of homozygosity for the non-functional X allele in this cohort. No significant differences in sports performance (score) could be observed based on the genotype. Conclusions: Our results may support the importance of the ACTN3 genotype, specifically, the presence of the 577R allele, as one of the contributive factors for athletes’ performance in modalities that involve muscle strength, power, and speed. However, given the small sample size and the retrospective nature of this study, further research is warranted. Full article

Background: Iron deficiency is a prevalent issue among elite athletes, particularly in endurance-based sports like football, where optimal iron status is crucial for aerobic capacity and performance. Despite the well-documented role of iron in oxygen transport and energy metabolism, the interplay between genetic polymorphisms, biochemical markers, and iron supplementation remains poorly understood. This study aimed to investigate the relationship between genetic polymorphisms and iron status in professional football players, assess the impact of iron supplementation on athletic performance, and develop a predictive model for iron supplementation based on genetic and biochemical profiles. Methods: A longitudinal study was conducted over three seasons (2021–2024) with 48 male professional football players. Participants underwent genotyping for polymorphisms in ACE (rs4646994), ACTN3 (rs1815739), AMPD1 (rs17602729), CKM (rs8111989), HFE (rs1799945), and MLCK (rs2700352, rs28497577). Biochemical markers (ferritin, haemoglobin, haematocrit, serum iron) and performance metrics (GPS-derived data) were monitored. Iron supplementation (105 mg/day ferrous sulphate) was administered to players with ferritin <30 ng/mL. A Total Genotype Score (TGS) was calculated to evaluate genetic predisposition. Results: Players with “optimal” genotypes (ACE DD, ACTN3 CC, AMPD1 CC, HFE GC) required less iron supplementation (TGS = 51.25 vs. 41.32 a.u.; p = 0.013) and exhibited better performance metrics. Iron supplementation significantly improved haemoglobin and haematocrit in deficient players (p < 0.05). The TGS predicted supplementation need (AUC = 0.711; p = 0.023), with a threshold of 46.42 a.u. (OR = 5.23, 95% CI: 1.336–14.362; p = 0.017 for non-supplemented players). Furthermore, performance data revealed that iron-supplemented players had significantly lower competition time (1128.40 vs. 1972.84 min; p = 0.003), total distance covered (128,129.42 vs. 218,556.64 m; p = 0.005), and high-speed running in the 18–21 km/h (7.58 vs. 10.36 m/min; p = 0.007) and 21–24 km/h (4.43 vs. 6.13 m/min; p = 0.010) speed zones. They also started fewer matches (11.50 vs. 21.59; p < 0.001). Conclusions: Genetic profile combined with biochemical monitoring effectively predicts iron supplementation needs in athletes. Personalized nutrition strategies, guided by TGS, can optimize iron status and enhance performance in elite football players. This approach bridges a critical gap in sports science, offering a framework for precision nutrition in athletics. Full article

This review comprehensively examines the molecular basis of donkey meat characteristics and growth-associated genes, integrating findings from multiple omics approaches. This study examines the nutritional profile of donkey meat, which is rich in protein, essential amino acids, and unsaturated fatty acids. Through a systematic literature search across Web of Science, Google Scholar, PubMed, and Scopus databases (2000–2024), we collected and analyzed data from 400 research articles using predefined inclusion criteria focused on nutritional composition, omics approaches, and meat quality parameters in donkey populations. The study also evaluates various factors affecting meat quality, including breed differences, age, feeding management, and storage conditions. Advanced genomic and transcriptomic analyses have revealed numerous candidate genes, such as ACTN3, BMP7, NR6A1, Wnt7a, HOXC8, LCORL, TPM2, and TPM3, associated with growth traits and meat quality characteristics, providing valuable insights for genetic improvement programs. Furthermore, the review discusses various authentication methods for ensuring donkey meat quality and preventing adulteration, highlighting the integration of traditional and modern analytical approaches. Full article

Objective: Lop sheep species exhibit remarkable adaptability to desert pastures and extreme arid climates, demonstrating tolerance to rough feeding and high resistance to stress. However, little is known about the population genetic diversity of Lop sheep and the genetic mechanisms underlying their adaptability to extreme environments. Methods: Blood samples were collected from a total of 110 individuals comprising 80 Ruoqiang Lop sheep and 30 Yuli Lop sheep. A total of 110 Lop sheep were subjected to whole genome resequencing to analyze genetic diversity, population structure, and signatures of selection in both regions. Results: The genetic diversity of the Lop sheep population is substantial, and the degree of inbreeding is low. In comparison to the Lop sheep in Yuli County, the genetic diversity and linkage disequilibrium analysis results for the Lop sheep population in Ruoqiang County are slightly lower. Population structure analysis indicates that Ruoqiang and Yuli Lop sheep have differentiated into two independent groups. Using Yuli Lop sheep as the reference group, an analysis of the extreme environmental adaptability selection signal of Lop sheep was conducted. The FST and π ratio under the 1% threshold identified 1686 and 863 candidate genes, respectively, with their intersection yielding a total of 122 candidate genes. Functional annotation revealed that these genes are associated with various traits, including immune response (SLC12A2, FOXP1, PANX1, DYNLRB2, RAP1B, and SEMA4D), heat and cold resistance (DNAJC13, PLCB1, HIKESHI, and PITPNC1), desert adaptation (F13A1, PANX1, ST6GAL1, STXBP3, ACTN4, and ATP6V1A), and reproductive performance (RAP1B, RAB6A, PLCB1, and METTL15). Conclusions: These research findings provide a theoretical foundation for understanding the survival and reproductive characteristics of Lop sheep in extreme environments, and they hold practical value for the conservation and utilization of Lop sheep genetic resources, as well as for genetic improvement efforts. Full article