Mitochondrial haplogroups associated with elite Japanese athlete status

Purpose It has been hypothesised that certain mitochondrial haplogroups, which are defined by the presence of a characteristic cluster of tightly linked mitochondrial DNA polymorphisms, would be associated with elite Japanese athlete status. To examine this hypothesis, the frequencies of mitochondrial haplogroups found in elite Japanese athletes were compared with those in the general Japanese population. Methods Subjects comprised 139 Olympic athletes (79 endurance/middle-power athletes (EMA), 60 sprint/power athletes (SPA)) and 672 controls (CON). Two mitochondrial DNA fragments containing the hypervariable sequence I (m16024-m16383) of the major non-coding region and the polymorphic site at m. 5178C>A within the NADH dehydrogenase subunit 2 gene were sequenced, and subjects were classified into 12 major mitochondrial haplogroups (ie, F, B, A, N9a, N9b, M7a, M7b, M*, G2, G1, D5 or D4). The mitochondrial haplogroup frequency differences among EMA, SPA and CON were then examined. Results EMA showed an excess of haplogroup G1 (OR 2.52, 95% CI 1.05 to 6.02, p=0.032), with 8.9% compared with 3.7% in CON, whereas SPA displayed a greater proportion of haplogroup F (OR 2.79, 95% CI 1.28 to 6.07, p=0.007), with 15.0% compared with 6.0% in CON. Conclusions The results suggest that mitochondrial haplogroups G1 and F are associated with elite EMA and SPA status in Japanese athletes, respectivel

Validation of whole-blood transcriptome signature during microdose recombinant human erythropoietin (rHuEpo) administration

BACKGROUND: Recombinant human erythropoietin (rHuEpo) can improve human performance and is therefore frequently abused by athletes. As a result, the World Anti-Doping Agency (WADA) introduced the Athlete Biological Passport (ABP) as an indirect method to detect blood doping. Despite this progress, challenges remain to detect blood manipulations such as the use of microdoses of rHuEpo. METHODS: Forty-five whole-blood transcriptional markers of rHuEpo previously derived from a high-dose rHuEpo administration trial were used to assess whether microdoses of rHuEpo could be detected in 14 trained subjects and whether these markers may be confounded by exercise (n = 14 trained subjects) and altitude training (n = 21 elite runners and n = 4 elite rowers, respectively). Differential gene expression analysis was carried out following normalisation and significance declared following application of a 5% false discovery rate (FDR) and a 1.5 fold-change. Adaptive model analysis was also applied to incorporate these markers for the detection of rHuEpo. RESULTS: ALAS2, BCL2L1, DCAF12, EPB42, GMPR, SELENBP1, SLC4A1, TMOD1 and TRIM58 were differentially expressed during and throughout the post phase of microdose rHuEpo administration. The CD247 and TRIM58 genes were significantly up- and down-regulated, respectively, immediately following exercise when compared with the baseline both before and after rHuEpo/placebo. No significant gene expression changes were found 30 min after exercise in either rHuEpo or placebo groups. ALAS2, BCL2L1, DCAF12, SLC4A1, TMOD1 and TRIM58 tended to be significantly expressed in the elite runners ten days after arriving at altitude and one week after returning from altitude (FDR > 0.059, fold-change varying from 1.39 to 1.63). Following application of the adaptive model, 15 genes showed a high sensitivity (≥ 93%) and specificity (≥ 71%), with BCL2L1 and CSDA having the highest sensitivity (93%) and specificity (93%). CONCLUSIONS: Current results provide further evidence that transcriptional biomarkers can strengthen the ABP approach by significantly prolonging the detection window and improving the sensitivity and specificity of blood doping detection. Further studies are required to confirm, and if necessary, integrate the confounding effects of altitude training on blood doping

Foot Structure and Function in Habitually Barefoot and Shod Adolescents in Kenya.

Habitually barefoot (HB) children from the Kalenjin tribe of Kenya are known for their high physical activity levels. To date, there has been no comprehensive assessment of foot structure and function in these highly active and HB children/adolescents and link with overuse injuries. PURPOSE: The aim of this research is to assess foot structure, foot function, injury and physical activity levels in Kenyan children and adolescents who are HB compared with those who were habitually shod (HS). METHODS: Foot structure, function, injury prevalence, and physical activity levels were studied using two studies with equal numbers of HS and HB. HS and HB children and adolescents were matched for age, sex, and body mass. Foot arch characteristics, foot strength, and lower-limb injury prevalence were investigated in Study 1 (n = 76). Heel bone stiffness, Achilles tendon moment arm length and physical activity levels in Study 2 (n=62). Foot muscle strength was measured using a strength device TKK 3360 and heel bone stiffness by bone ultrasonometry. The moment arm length of the Achilles tendon was estimated from photographs and physical activity was assessed using questionnaires and accelerometers. RESULTS: Foot shortening strength was greater in HB (4.8 ± 1.9 kg vs 3.5 ± 1.8 kg, P < 0.01). Navicular drop was greater in HB (0.53 ± 0.32 cm vs 0.39 ± 0.19 cm, P < 0.05). Calcaneus stiffness index was greater (right 113.5 ± 17.1 vs 100.5 ± 116.8, P < 0.01 left 109.8 ± 15.7 vs 101.7 ± 18.7, P < 0.05) and Achilles tendon moment arm shorter in HB (right, 3.4 ± 0.4 vs 3.6 ± 0.4 cm, P < 0.05; left, 3.4 ± 0.5 vs 3.7 ± 0.4 cm, P < 0.01). Lower-limb injury prevalence was 8% in HB and 61% in HS. HB subjects spent more time engaged in moderate to vigorous physical activity (60 ± 26 min·d vs 31 ± 13 min·d; P < 0.001). CONCLUSIONS: Significant differences observed in foot parameters, injury prevalence and general foot health between HB and HS suggest that footwear conditions may impact on foot structure and function and general foot health. HB children and adolescents spent more time engaged in moderate to vigorous physical activity and less time sedentary than HS children and adolescents

An electrochemically active green synthesized polycrystalline NiO/MgO catalyst: Use in photo-catalytic applications

For many years, research scientists have aided communities in their tremendous efforts towards environmental remediation. Due to their high physical and chemical stability, metal oxide nanoparticles (NPs) have been used as metal catalysts to remedy this issue. This article reviews green approaches for the synthesis of metal oxide nanoparticles, in aqueous bio-reductive polyphenols from punica granatum peel extract and the degradation of organic pollutants. The bimetallic nanocomposite of face-centred cubic NiO/MgO pseudocapacitors were successfully prepared via the polyphenols of punica granatum peel extracts. X-ray diffraction spectroscopy (XRD) successfully provide evidence of polycrystalline face-centre cubic nanocomposite (high crystallinity index (Icry) > 1) while revealing their interplanar distance. The spherical and irregular particle distribution of the binary NiO/MgO nanocomposite (at different calcination temperatures) was assessed by high resolution-TEM. FTIR, GC–MS and EDS provided evidence of the proposed mechanism during coordination between polyphenols and metal precursors. The popular “egg box model” is referred to in the case of polyphenols-metal interaction. The unique feature of two consecutive chelation site per repeat that provides a favourable entropic contribution to the inter-chain association is produced by this model governed by electrostatic interactions. Based on the obtained results, new structural models of Ni2+/Mg2+-polyphenols (punicalagin) complexes were proposed. UV–vis and Cyclic voltammetry confirmed the growth and band gap energies of the nanocomposite. NiO/MgO nanocomposite was found to be excellent photocatalysts for the degradation of methylene orange and methylene blue under the illumination of artificial light irradiation. The experiments demonstrated that MB in aqueous solution was more efficiently photo-degraded (87%) than MO (73%) using NiO/MgO nanocomposite as photocatalysts within 10 min of exposure. Conclusively, the nanocomposite was found to be more efficient compared to other reported oxides.ISI & Scopu

Mitochondrial DNA Haplogroup D4a Is a Marker for Extreme Longevity in Japan

We report results from the analysis of complete mitochondrial DNA (mtDNA) sequences from 112 Japanese semi-supercentenarians (aged above 105 years) combined with previously published data from 96 patients in each of three non-disease phenotypes: centenarians (99–105 years of age), healthy non-obese males, obese young males and four disease phenotypes, diabetics with and without angiopathy, and Alzheimer's and Parkinson's disease patients. We analyze the correlation between mitochondrial polymorphisms and the longevity phenotype using two different methods. We first use an exhaustive algorithm to identify all maximal patterns of polymorphisms shared by at least five individuals and define a significance score for enrichment of the patterns in each phenotype relative to healthy normals. Our study confirms the correlations observed in a previous study showing enrichment of a hierarchy of haplogroups in the D clade for longevity. For the extreme longevity phenotype we see a single statistically significant signal: a progressive enrichment of certain “beneficial” patterns in centenarians and semi-supercentenarians in the D4a haplogroup. We then use Principal Component Spectral Analysis of the SNP-SNP Covariance Matrix to compare the measured eigenvalues to a Null distribution of eigenvalues on Gaussian datasets to determine whether the correlations in the data (due to longevity) arises from some property of the mutations themselves or whether they are due to population structure. The conclusion is that the correlations are entirely due to population structure (phylogenetic tree). We find no signal for a functional mtDNA SNP correlated with longevity. The fact that the correlations are from the population structure suggests that hitch-hiking on autosomal events is a possible explanation for the observed correlations

AGTR2 and sprint/power performance: a case-control replication study for rs11091046 polymorphism in two ethnicities

We aimed to replicate, in a specific athletic event cohort (only track and field) and in two different ethnicities (Japanese and East European, i.e. Russian and Polish), original findings showing the association of the angiotensin-II receptor type-2 gene (AGTR2) rs11091046 A>C polymorphism with athlete status. We compared genotypic frequencies of the AGTR2 rs11091046 polymorphism among 282 track and field sprint/ power athletes (200 men and 82 women), including several national record holders and Olympic medallists (214 Japanese, 68 Russian and Polish), and 2024 control subjects (842 men and 1182 women) (804 Japanese, 1220 Russian and Polish). In men, a meta-analysis from the two combined cohorts showed a significantly higher frequency of the C allele in athletes than in controls (odds ratio: 1.62, P=0.008, heterogeneity index I 2 =0%). With regard to respective cohorts, C allele frequency was higher in Japanese male athletes than in controls (67.7% vs. 55.9%, P=0.022), but not in Russian/Polish male athletes (61.9% vs. 51.0%, P=0.172). In women, no significant results were obtained by meta-analysis for the two cohorts combination (P=0.850). The AC genotype frequency was significantly higher in Russian/Polish women athletes than in controls (69.2% vs. 42.1%, P=0.022), but not in Japanese women athletes (P=0.226). Our results, in contrast to previous findings, suggested by meta-analysis that the C allele of the AGTR2 rs11091046 polymorphism is associated with sprint/ power track and field athlete status in men, but not in women

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

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