Search Results (8)

Background/Objectives: Since its emergence in 2020, researchers worldwide have been collaborating to better understand the SARS-CoV-2 disease’s pathophysiology. Disease severity can vary based on several factors, including comorbidities and genetic variations. Notably, recent studies have highlighted the role of genes associated with athletic performance, such as ACE, ACTN3, and PPARGC1A, in influencing muscle function, cardiovascular health, and the body’s metabolic response. Given that these genes also impact oxidative metabolism, inflammation, and respiratory efficiency, we hypothesized that they might play a critical role in the host’s response to SARS-CoV-2 infection. This study aimed to investigate the association between disease severity and genetic polymorphisms in these sport performance-related genes, specifically ACE rs4646994, ACTN3 rs1815739, and PPARGC1A rs8192678. Methods: A total of 422 COVID-19-positive patients were included in this study. The participants were divided into three groups: a severe group (77 patients) requiring intensive care unit (ICU) admission, a mild group (300 patients) exhibiting at least one symptom, and an asymptomatic control group. Genotyping was performed using restriction fragment length polymorphism PCR. Results: The D allele and DD genotype of ACE and the T allele and TT genotype of ACTN3 were found to confer protective effects against severe SARS-CoV-2 infection. Conversely, the PPARGC1A TC genotype and the ACE-PPARGC1A ins/ins + TC combined genotype were associated with increased disease severity (p < 0.05). Conclusions: Although vaccination has reduced the severity of SARS-CoV-2, the virus continues to impact human health. Inter-individual differences due to these genetic variations will broaden the horizon of knowledge on the pathophysiology of the disease. Full article

Several genetic markers have shown associations with muscle performance and physical abilities, but the response to exercise therapy is still unknown. The aim of this study was to test the response of patients with long COVID through an aerobic physical therapy strategy by the Nordic walking program and how several genetic polymorphisms involved in muscle performance influence physical capabilities. Using a nonrandomized controlled pilot study, 29 patients who previously suffered from COVID-19 (long COVID = 13, COVID-19 = 16) performed a Nordic walking exercise therapy program for 12 sessions. The influence of the ACE (rs4646994), ACTN3 (rs1815739), AMPD1 (rs17602729), CKM (rs8111989), and MLCK (rs2849757 and rs2700352) polymorphisms, genotyped by using single nucleotide primer extension (SNPE) in lactic acid concentration was established with a three-way ANOVA (group × genotype × sessions). For ACE polymorphism, the main effect was lactic acid (p = 0.019). In ACTN3 polymorphism, there were no main effects of lactic acid, group, or genotype. However, the posthoc analysis revealed that, in comparison with nonlong COVID, long COVID increased lactic acid concentrations in Nordic walking sessions in CT and TT genotypes (all p < 0.05). For AMPD1 polymorphism, there were main effects of lactic acid, group, or genotype and lactic acid × genotype or lactic acid × group × genotype interactions (all p < 0.05). The posthoc analysis revealed that, in comparison with nonlong COVID, long COVID increased lactic acid concentrations in Nordic walking sessions in CC and CT genotypes (all p < 0.05). Physical therapy strategy through Nordic walking enhanced physical capabilities during aerobic exercise in post-COVID19 patients with different genotypes in ACTN3 c.1729C>T and AMPD1 c.34C>T polymorphisms. These findings suggest that individuals who reported long COVID who presumably exercised less beforehand appeared to be less able to exercise, based on lactate levels, and the effect of aerobic physical exercise enhanced physical capabilities conditioned by several genetic markers in long COVID patients. Full article

This study aimed to investigate the longitudinal evolution of vertical jump height in soccer players and its association with their genotypic profiles. The genotypes of 37 soccer players were characterized and the countermovement jump (CMJ) height, concentric mean power, force, and jump strategy were assessed at two time points: at the onset of the regular season (Pre) and at the conclusion of the first half (Mid). AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989), and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped. No significant differences were found between Pre and Mid in concentric power (p = 0.068; d = 0.08) or force (p = 0.258; d = 0.04), while jump height displayed trivial increases (p = 0.046; d = 0.15). Individual analysis revealed that 38% of participants increased the vertical jump height and mean concentric power over the smallest worthwhile change (SWC), while 27% experienced an increased mean concentric force. The positive responders were characterized by a decreased frequency of the AA genotype and an increased frequency of the CA genotype for the c.37885C>A polymorphism of MLCK (p = 0.035), as well as a decreased frequency of the TT genotype of ACTN3 (p = 0.042) and the CC genotype of AMPD1 (p = 0.022). Our findings suggest that genetic analysis could explain some variability in neuromuscular adaptations during the in-season. Full article

Traumatic muscle injuries (TMIs) and muscle pain (MP) negatively impact athletes’ performance and quality of life. Both conditions have a complex pathophysiology involving the interplay between genetic and environmental factors. Yet, the existing data are scarce and controversial. To provide more insights, this study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) previously linked to athletic status with TMI and MP after exercise among Brazilian high-performance athletes from different sports modalities (N = 345). The impact of important environmental determinants was also assessed. From the six evaluated SNPs (ACTN3 rs1815739, FAAH rs324420, PPARGC1A rs8192678, ADRB2 rs1042713, NOS3 rs1799983, and VDR rs731236), none was significantly associated with TMI. Regarding MP after exercise, ACTN3 rs1815739 (CC/CT vs. TT; adjusted odds ratio (aOR) = 1.90; 95% confidence interval (95%Cl), 1.01–3.57) and FAAH rs324420 (AA vs. AC/CC; aOR = 2.30; 95%Cl, 1.08–4.91) were independent predictors according to multivariate binomial analyses adjusted for age (≥23 vs. <23 years), sex (male vs. female), and tobacco consumption (yes vs. no). External validation is warranted to assess the predictive value of ACTN3 rs1815739 and FAAH rs324420. This could have implications for prophylactic interventions to improve athletes’ quality of life. Full article

Background: There is a lack of specific genetic studies regarding injuries in women’s football. However, different genetic factors have been associated with tendon/ligament injuries in women football players. The aim of the study was to examine the genotypic frequencies of genes associated with injury risk and epidemiology in women’s amateur football players and the aetiology of injuries. Methods: In total, 168 women’s amateur football players from football clubs in the Spanish second division league and Caucasian descent were enrolled in this prospective observational cross-sectional study. AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped. The characteristics of 169 non-contact injuries during the 2022/2023 season were classified following the International Olympic Committee (IOC) Consensus Statement for reporting injuries as follows: musculoskeletal, tendon/ligament, injury setting; and severity. The disequilibria of polymorphisms were estimated using the Hardy–Weinberg Equilibrium (HWE). The characteristics of the injuries were recorded, and the genotype characteristics were analysed. The genotype frequencies of all polymorphisms were compared between non-injured and injured football players and injury aetiologies. Results: The AMPD1 genotype distribution differed between tendon/ligament injured and non-injured (p = 0.003) with a higher frequency in the TT genotype and T allele. The genotype distribution was different for the CKM and MLCK c.37885C>A polymorphisms in training and match injuries (p = 0.038 and p = 0.031, respectively). In the ACTN3 and AMPD1 polymorphisms, the distribution of the TT genotype in both genes showed a higher frequency in severe injuries (all p < 0.001). Conclusions: Tendon/ligament injury epidemiology in women’s amateur football players was associated especially with the TT genotype of the AMPD1 gene. The TT genotype of the AMPD1 and ACTN3 genes was also associated with severity, and the CKM and MLCK polymorphisms were associated with injury settings. Full article

Background: Skiing is a popular outdoor sport posing different requirements on musculoskeletal and cardiorespiratory function to excel in competition. The extent to which genotypic features contribute to the development of performance with years of ski-specific training remains to be elucidated. We therefore tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE-I/D, rs1799752), tenascin-C (TNC, rs2104772), actinin-3 (ACTN3, rs1815739) and PTK2 (rs7460 and rs7843014) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level skiers. Material & Methods: Forty-three skiers of a world-leading national ski team performed exhaustive cardiopulmonary exercise testing as well as isokinetic strength testing for single contractions, whereby 230 cardiopulmonary measurements were performed in the period from 2015–2018. A total of 168 and 62 data measurements were from the Alpine and Nordic skiing squads, respectively. Ninety-five and one hundred thirty-five measurements, respectively, were from male and female athletes. The average (±SD) age was 21.5 ± 3.0 years, height 174.0 ± 8.7 cm, and weight 71.0 ± 10.9 kg for the analysed skiers. Furthermore, all skiers were analysed concerning their genotype ACE-I/D, Tenascin C, ACTN3, PTK2. Results: The genotype distribution deviated from Hardy–Weinberg equilibrium for the ACTN3 genotype, where rs1815739-TT genotypes (corresponding to the nonsense mutation) were overrepresented in world-class skiers, indicating a slow muscle fibre phenotype. Furthermore, the heterozygous rs2104772-AT genotypes of TNC also demonstrated the best scaled peak power output values during ramp exercise to exhaustion. The highest values under maximum performance for heart rate were associated with the rs1799752-II and rs1815739-CC genotypes. The lowest values for peak power of single contractions were achieved for rs1815739-CC, rs1799752-II and rs7843014-CT genotypes. The skiing discipline demonstrated a main influence on cardiorespiratory parameters but did not further interact with genotype-associated variability in performance. Discussion: Classically, it is pointed out that muscles of, for example, alpine skiers do not possess a distinct fibre type composition, but that skiers tend to have a preponderance of slow-twitch fibres. Consequently, our findings of an overrepresentation of ACTN3-TT genotypes in a highly selective sample of elite world class skiers support the potential superiority of a slow fibre type distribution. Conclusions: We suggest that one competitive advantage that results from a slow, typically fatigue-resistant fibre type distribution might be that performance during intense training days is better preserved, whereby simply a higher technical training volume can be performed, yielding to a competitive advantage. Full article

Athletic performance is influenced by many factors such as the environment, diet, training and endurance or speed in physical effort and by genetic predisposition. Just a few studies have analyzed the impact of genotypes on physical performance in rugby. The aim of this study was to verify the modulation of genetic influence on rugby-specific physical performance. Twenty-seven elite rugby union players were involved in the study during the in-season phase. Molecular genotyping was performed for: angiotensin-converting enzyme (ACE rs4646994), alfa-actinin-3 (ACTN3 rs1815739) and monocarboxylate transporter 1 (MCT1 rs1049434) and their variants. Lean mass index (from skinfolds), lower-limb explosive power (countermovement jump), agility (505), speed (20 m), maximal aerobic power (Yo-yo intermittent recovery test level 1) and repeated sprint ability (12 × 20 m) were evaluated. In our rugby union players ACE and ACTN3 variants did not show any influence on athletic performance. MCT1 analysis showed that TT-variant players had the highest peak vertical power (p = 0.037) while the ones with the AA genotype were the fastest in both agility and sprint tests (p = 0.006 and p = 0.012, respectively). Considering the T-dominant model, the AA genotype remains the fastest in both tests (agility: p = 0.013, speed: p = 0.017). Only the MCT1 rs1049434 A allele seems to be advantageous for elite rugby union players, particularly when power and speed are required. Full article

As one of the most important poultry worldwide, ducks (Anas platyrhynchos) are raised mainly for meat and egg products, and muscle development in ducks is important for meat production. Therefore, an investigation of gene expression in duck skeletal muscle would significantly contribute to our understanding of muscle development. In this study, twenty-four cDNA libraries were constructed from breast and leg muscles of Hanzhong Ma ducks at day 17, 21, 27 of the embryo and postnatal at 6-month-old. High-throughput sequencing and bioinformatics were used to determine the abundances and characteristics of transcripts. A total of 632,172,628 (average 52,681,052) and 637,213,938 (average 53,101,162) reads were obtained from the sequencing data of breast and leg muscles, respectively. Over 71.63% and 77.36% of the reads could be mapped to the Anas platyrhynchos genome. In the skeletal muscle of Hanzhong duck, intron variant (INTRON), synonymous variant (SYNONYMOUS_CODING), and prime 3′ UTR variant (UTR_3_PRIME) were the main single nucleotide polymorphisms (SNP) annotation information, and “INTRON”, “UTR_3_PRIME”, and downstream-gene variant (DOWNSTREAM) were the main insertion-deletion (InDel) annotation information. The predicted number of alternative splicing (AS) in all samples were mainly alternative 5′ first exon (transcription start site)-the first exon splicing (TSS) and alternative 3′ last exon (transcription terminal site)-the last exon splicing (TTS). Besides, there were 292 to 2801 annotated differentially expressed genes (DEGs) in breast muscle and 304 to 1950 annotated DEGs in leg muscle from different databases. It is worth noting that 75 DEGs in breast muscle and 49 DEGs in leg muscle were co-expressed at all developmental points of comparison, respectively. The RNA-Seq data were confirmed to be reliable by qPCR. The identified DEGs, such as CREBL2, RHEB, GDF6, SHISA2, MYLK2, ACTN3, RYR3, and STMN1, were specially highlighted, indicating their strong associations with muscle development in the Hanzhong Ma duck. KEGG pathway analysis suggested that regulation of actin cytoskeleton, oxidative phosphorylation, and focal adhesion were involved in the development of skeletal muscle. The findings from this study can contribute to future investigations of the growth and development mechanism in duck skeletal muscle. Full article