Torque Production at Different Velocities as a Predictor of the Proportion of Fast-twitch Muscle Fibers in Skeletal Muscles of Athletes

© 2020, Pleiades Publishing, Inc. Abstract: The aim of the study was to evaluate the possibility to predict the muscle fiber-type proportion in men of different sports specialization by testing the maximal torque production by knee extensors at different velocities. For this reason the proportion of fast- and slow-twitch muscle fibers (MFs) in m. vastus lateralis of 23 athletes (11 endurance and 12 power athletes), as well the maximal torque production of knee extensors at various angular velocities in isokinetic mode were determined. The group of strength trained athletes significantly exceeded the group of endurance trained athletes in body mass, body mass index, volume of the m. quadriceps femoris, maximum torque production, and specific force at angular velocities 30, 180 and 300 degrees per second. In contrast to cross-sectional area (CSA) of slow-twitch MFs, the average CSA of fast-twitch MFs and the proportion of fast-twitch MFs in the group of power athletes significantly exceeded those in the group of endurance athletes. In the combined group of volunteers (n = 23), the proportion of fast-twitch MFs significantly correlated with the torque production at high angular velocities (r = 0.51 and p = 0.01 at 180 deg/s; r = 0.47 and p = 0.02 at 300 deg/s). We did not find any correlation between these parameters in the separate groups of power and endurance athletes. The results indicate a low accuracy in predicting the proportion of fast-twitch MF in m. vastus lateralis in athletes using the maximal torque production of knee extensors at different angular velocities. Significant correlation between the proportion of fast-twitch MF and maximal torque at high angular velocities in the general group (n = 23) was due to the presence of two significantly different subgroups

Is testosterone responsible for athletic success in female athletes?

© 2020 ediZioNi MiNerVa Medica BacKGrouNd: The aim of this study was to determine the interrelationship between the resting serum testosterone (T) levels of female athletes from different types of sporting events and their athletic success. MeThodS: The study involved 599 russian international-level female athletes (95 highly elite, 190 elite, and 314 sub-elite; age: 16-35 years) and 298 age-matched female controls. The athlete cohort was stratified into four groups according to event duration, distance, and type of activity: 1) endurance athletes; 2) athletes with mixed activity; 3) speed/strength athletes; 4) sprinters. athletic success was measured by determining the level of achievement of each athlete. reSulTS: The mean T levels of athletes and controls were 1.65±0.87 and 1.76±0.6 nmol/l (p=0.057 for difference between groups) with ranges of 0.08-5.82 and 0.38-2.83 nmol/l in athletes and controls, respectively. T levels were positively associated with athletic success in sprinters (p=0.0002 adjusted for age) only. Moreover, none of the sub-elite sprinters had T>1.9 nmol/l, while 50% of elite and highly elite sprinters had T>1.9 nmol/l (or=47.0; p<0.0001). CONCLUSIONS: Our data suggest that the measurement of the serum T levels significantly correlates with athletic success in sprinters but not other types of athletes and in the future may be useful in the prediction of sprinting ability

Whole genome sequencing of elite athletes

© 2020 Institute of Sport. All rights reserved. Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers. The maximum number of high-quality variants per sample was over 3.8 M for single nucleotide polymorphisms (SNPs) and about 0.64 M for indels. The maximum number of nonsense mutations was 148 single nucleotide variants (SNVs) per individual. Athletes' genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-Athletes' exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. Finally, we applied genomic data for the association analysis and used reaction time (RT) as an example. Out of 1884 known genome-wide significant SNPs related to RT, we identified four SNPs (KIF27 rs10125715, APC rs518013, TMEM229A rs7783359, LRRN3 rs80054135) associated with RT in wrestlers. The cumulative number of favourable alleles (KIF27 A, APC A, TMEM229A T, LRRN3 T) was significantly correlated with RT both in wrestlers (P = 0.0003) and an independent cohort (n = 43) of physically active subjects (P = 0.029). Furthermore, we found that the frequencies of the APC A (53.3 vs 44.0%, P = 0.033) and LRRN3 T (7.5 vs 2.8%, P = 0.009) alleles were significantly higher in elite athletes (n = 107) involved in sports with RT as an essential component of performance (combat sports, table tennis and volleyball) compared to less successful (n = 176) athletes. The LRRN3 T allele was also over-represented in elite athletes (7.5%) in comparison with 189 controls (2.9%, P = 0.009). In conclusion, we present the first WGS study of athletes showing that WGS can be applied in sport and exercise science

Применение фекальной трансплантации в лечении заболеваний пищеварительного тракта (первый клинический опыт)

Materials and Methods: Following primary identification and typing of gut flora composition using microbiological, genetic and metabolomic methods, microbiota substrate pre-sampled from prepared healthy donors was administered to 30 patients with various GIT conditions (pseudomembranous Clostridium colitis, Colitis ulcerosa, Grohn's disease, irritable bowel syndrome, chronic fatigue syndrome). The efficiency of the procedure was determined on the basis of the clinical presentation, lab test results and comparison of microbiota condition prior to transplantation and at least at three points after transplantation - in 2 weeks, 1 and 3 months, using microbiological and metagenomic methods. Study Results: Following one procedure, all patients with antibiotic-associated Clostridium difficile colitis had remission and their normal microflora recovered. Patients with inflammatory GIT conditions had 1 to 2 procedures (depending on the process severity) in addition to their basic therapy, and the positive effect was recorded in all patients (remission, possible drug dose reduction). Conclusion: Faecal transplantation in various pathological GIT conditions demonstrated its perspective and huge therapeutic potential for Colitis ulcerosa, Grohn's disease, C. difficile-associated colitis, functional GIT conditions, metabolic disorders. The efficiency of endoscopic oral transplantation was higher as compared to rectal administration or lyophilized material in capsules.Цель исследования: показать эффективность трансплантации микробиоты кишечника при различных заболеваниях желудочно-кишечного тракта (ЖКТ). Дизайн: открытое несравнительное исследование. Материалы и методы. После первичной идентификации и типирования состава микрофлоры кишечника с использованием микробиологических, генетических и метаболомных методов субстрат микробиоты, предварительно забранной у подготовленных здоровых доноров, вводили 30 больным различными заболеваниями ЖКТ (псевдомембранозным клостридийным колитом, язвенным колитом, болезнью Крона, синдромом раздраженного кишечника, синдромом хронической усталости). Эффективность процедуры определяли по динамике клинической картины, общеклинических лабораторных показателей и путем сравнения состояния микробиоты до пересадки и в минимум трех реперных точках - через 2 недели, 1 и 3 месяца после трансплантации, с использованием микробиологических и метагеномных методов. Результаты. У всех пациентов с антибиотико-ассоциированным Clostridium difficile-колитом после однократной процедуры наступали ремиссия и восстановление нормальной микрофлоры. Больным с воспалительными заболеваниями кишечника на фоне базовой терапии проводилось от 1 до 2 процедур (в зависимости от степени выраженности процесса) с положительным эффектом у всех (наступление ремиссии, возможность снижения доз принимаемых препаратов). Заключение. Опыт проведения трансплантации фекальных масс при различных патологических состояниях пищеварительного тракта показал ее перспективность, огромный терапевтический потенциал в отношении таких заболеваний, как язвенный колит, болезнь Крона, C. difficile-ассоциированный колит, функциональные заболевания ЖКТ, метаболические нарушения. Эффективность эндоскопического перорального метода проведения трансплантации оказалась выше по сравнению с таковой ректального введения или использования лиофилизированного материала в капсулах

The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis

© 2020, The Author(s). Purpose: Iron is an important component of the oxygen-binding proteins and may be critical to optimal athletic performance. Previous studies have suggested that the G allele of C/G rare variant (rs1799945), which causes H63D amino acid replacement, in the HFE is associated with elevated iron indexes and may give some advantage in endurance-oriented sports. The aim of the present study was to investigate the association between the HFE H63D polymorphism and elite endurance athlete status in Japanese and Russian populations, aerobic capacity and to perform a meta-analysis using current findings and three previous studies. Methods: The study involved 315 international-level endurance athletes (255 Russian and 60 Japanese) and 809 healthy controls (405 Russian and 404 Japanese). Genotyping was performed using micro-array analysis or by PCR. VO2max in 46 male Russian endurance athletes was determined using gas analysis system. Results: The frequency of the iron-increasing CG/GG genotypes was significantly higher in Russian (38.0 vs 24.9%; OR 1.85, P = 0.0003) and Japanese (13.3 vs 5.0%; OR 2.95, P = 0.011) endurance athletes compared to ethnically matched controls. The meta-analysis using five cohorts (two French, Japanese, Spanish, and Russian; 586 athletes and 1416 controls) showed significant prevalence of the CG/GG genotypes in endurance athletes compared to controls (OR 1.96, 95% CI 1.58–2.45; P = 1.7 × 10–9). Furthermore, the HFE G allele was associated with high V̇O2max in male athletes [CC: 61.8 (6.1), CG/GG: 66.3 (7.8) ml/min/kg; P = 0.036]. Conclusions: We have shown that the HFE H63D polymorphism is strongly associated with elite endurance athlete status, regardless ethnicities and aerobic capacity in Russian athletes

Are genome-wide association study identified single-nucleotide polymorphisms associated with sprint athletic status? A replication study with 3 different cohorts

Purpose: To replicate previous genome-wide association study identified sprint-related polymorphisms in 3 different cohorts of top-level sprinters and to further validate the obtained results in functional studies. Methods: A total of 240 Japanese, 290 Russians, and 593 Brazilians were evaluated in a case-control approach. Of these, 267 were top-level sprint/power athletes. In addition, the relationship between selected polymorphisms and muscle fiber composition was evaluated in 203 Japanese and 287 Finnish individuals. Results: The G allele of the rs3213537 polymorphism was overrepresented in Japanese (odds ratio [OR]: 2.07, P = .024) and Russian (OR: 1.93, P = .027) sprinters compared with endurance athletes and was associated with an increased proportion of fast-twitch muscle fibers in Japanese (P = .02) and Finnish (P = .041) individuals. A meta-analysis of the data from 4 athlete cohorts confirmed that the presence of the G/G genotype rather than the G/A+A/A genotypes increased the OR of being a sprinter compared with controls (OR: 1.49, P = .01), endurance athletes (OR: 1.79, P = .001), or controls + endurance athletes (OR: 1.58, P = .002). Furthermore, male sprinters with the G/G genotype were found to have significantly faster personal times in the 100-m dash than those with G/A+A/A genotypes (10.50 [0.26] vs 10.76 [0.31], P = .014). Conclusion: The rs3213537 polymorphism found in the CPNE5 gene was identified as a highly replicable variant associated with sprinting ability and the increased proportion of fast-twitch muscle fibers, in which the homozygous genotype for the major allele (ie, the G/G genotype) is preferable for performance

Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism

© Copyright © 2020 Al-Khelaifi, Yousri, Diboun, Semenova, Kostryukova, Kulemin, Borisov, Andryushchenko, Larin, Generozov, Miyamoto-Mikami, Murakami, Zempo, Miyachi, Takaragawa, Kumagai, Naito, Fuku, Abraham, Hingorani, Donati, Botrè, Georgakopoulos, Suhre, Ahmetov, Albagha and Elrayess. Background: The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis. Results: The association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 796 European international-level athletes (645 males, 151 females) by comparing allelic frequencies between athletes specialized in sports with high (n = 662) and low/moderate (n = 134) aerobic component. Replication of results was performed by comparing the frequencies of the most significant SNPs between 242 and 168 elite Russian high and low/moderate aerobic athletes, respectively, and between 60 elite Japanese endurance athletes and 406 controls. A meta-analysis has identified rs1052373 (GG homozygotes) in Myosin Binding Protein (MYBPC3; implicated in cardiac hypertrophic myopathy) gene to be associated with endurance athlete status (P = 1.43 × 10−8, odd ratio 2.2). Homozygotes carriers of rs1052373 G allele in Russian athletes had significantly greater VO2max than carriers of the AA + AG (P = 0.005). Subsequent metabolomics analysis revealed several amino acids and lipids associated with rs1052373 G allele (1.82 × 10–05) including the testosterone precursor androstenediol (3beta,17beta) disulfate. Conclusions: This is the first report of genome-wide significant SNP and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted

No evidence of a common DNA variant profile specific to world class endurance athletes

10.1371/journal.pone.0147330PLoS ONE111e014733