Showing papers by "Alun G. Williams published in 2011"
TL;DR: The α‐actinin‐3 (ACTN3) gene R577X polymorphism is associated with preferred racing distance in speed skaters and muscle fibre type composition and contributes to a small but perhaps important component of the ability to perform at a high level in speed skating.
Abstract: It is generally accepted that muscle fibre composition may influence physical performance. The α-actinin-3 (ACTN3) gene R577X polymorphism is suspected to be one of the contributing gene variations in the determination of muscle fibre type composition and athletic status. In the present study, we examined the dependence of average preferred racing distance (PRD) on muscle fibre type composition of the vastus lateralis muscle in 34 subelite Russian speed skaters (20 men and 14 women) who competed in races of different length (500–10,000 m). We also investigated the association between the ACTN3 polymorphism and muscle fibre characteristics in 94 subjects (60 physically active healthy men and 34 speed skaters), as well as the relationship between PRD and ACTN3 genotype in 115 subelite and elite speed skaters. In addition, ACTN3 genotype and allele frequencies of the 115 speed skaters were compared with 1301 control subjects. The ACTN3 XX genotype frequency was significantly lower in sprinters (n = 39) compared with control subjects (2.6 versus 14.5%; P = 0.034). We observed a positive relationship between PRD and the proportion of slow-twitch muscle fibres that was close to linear, but better fitted a logarithmic curve (r = 0.593, P < 0.0005). The ACTN3 R577X polymorphism was associated with muscle fibre composition (slow-twitch fibres: RR genotype, 51.7 (12.8)%; RX, 57.4 (13.2)%; XX 61.5 (16.3)%; ρ= 0.215; P = 0.049) in the overall muscle biopsy group, and with PRD of all athletes (ρ= 0.24, P = 0.010), indicating that ACTN3 XX genotype carriers exhibit a higher proportion of slow-twitch fibres and prefer to skate long-distance races. However, the majority of the association between muscle fibre type and PRD was independent of ACTN3 genotype. In conclusion, the ACTN3 R577X polymorphism is associated with preferred racing distance in speed skaters and muscle fibre type composition. Thus, it is probably partly via associations with fibre type that the R577X polymorphism contributes to a small but perhaps important component of the ability to perform at a high level in speed skating.
107 citations
TL;DR: The genetic potential for muscular strength within a human population appears to be limited by polygenic profile similarity, with no individual differing by more than seven genotypes from a typical profile.
Abstract: Environmental and genetic factors influence muscle function, resulting in large variations in phenotype between individuals. Multiple genetic variants (polygenic in nature) are thought to influence exercise-related phenotypes, yet how the relevant polymorphisms combine to influence muscular strength in individuals and populations is unclear. In this analysis, 22 genetic polymorphisms were identified in the literature that have been associated with muscular strength and power phenotypes. Using typical genotype frequencies, the probability of any given individual possessing an "optimal" polygenic profile was calculated as 0.0003% for the world population. Future identification of additional polymorphisms associated with muscular strength phenotypes would most likely reduce that probability even further. To examine the genetic potential for muscular strength within a human population, a "total genotype score" was generated for each individual within a hypothetical population of one million. The population expressed high similarity in polygenic profile with no individual differing by more than seven genotypes from a typical profile. Therefore, skeletal muscle strength potential within humans appears to be limited by polygenic profile similarity. Future research should aim to replicate more genotype-phenotype associations for muscular strength, because only five common genetic polymorphisms identified to date have positive replicated findings.
60 citations
TL;DR: A change in fibre‐type composition does not explain the increased in vivo specific tension, nor does it seem likely that increased myofilament packing occurred with resistance training, however, an unchanged in vivo power per unit muscle volume is in accordance with the notion of enhanced lateral force transmission after strength training.
Abstract: It is not known why in vivo muscle specific tension increases following resistance training in humans but changes in muscle fibre-type composition, increased single-fibre specific tension or lateral force transmission might provide explanations. Lateral force transmission would increase specific tension but decrease contraction velocity, thus not affecting maximal power per unit muscle volume. In vivo muscle specific tension, power output and muscle volume were determined in the quadriceps femoris of 42 young men, while myosin heavy chain (MyHC) isoform composition, single-fibre (SF) specific tension, SF maximal shortening velocity (V(max)) and SF peak power (W(max)) of the vastus lateralis were established in a subsample (n = 17) before and after high-intensity leg-extension resistance training (3 sessions week(-1) for 9 weeks). Following training, in vivo muscle specific tension increased by 17% but the power output/muscle volume ratio remained unaltered. Furthermore, there was no relationship between the training-induced decrease in MyHC IIX and the change in specific tension in vivo. In addition, SF specific tension, V(max) and W(max) were unchanged following training. In conclusion, a change in fibre-type composition does not explain the increased in vivo specific tension, nor does it seem likely that increased myofilament packing occurred with resistance training. However, an unchanged in vivo power per unit muscle volume is in accordance with the notion of enhanced lateral force transmission after strength training.
49 citations
TL;DR: In 20 untrained young women, co‐ordinated adaptation of several metabolic enzymes following endurance training was revealed, despite differences between people in the magnitude of response.
Abstract: Skeletal muscles improve their oxidative fatty acid and glucose metabolism following endurance training, but the magnitude of response varies considerably from person to person. In 20 untrained young women we examined interindividual variability in training responses of metabolic enzymes following 6 weeks of endurance training, sufficient to increase maximal oxygen uptake by 10 ± 8% (mean ± SD). Training led to increases in mitochondrial enzymes [succinate dehydrogenase (SDH; 47 ± 78%), cytochrome c oxidase (52 ± 70%) and ATP synthase (63 ± 69%)] and proteins involved in fatty acid metabolism [3-hydroxyacyl CoA dehydrogenase (69 ± 92%) and fatty acid transporter CD36 (86 ± 31%)]. Increases in enzymes of glucose metabolism [phosphofructokinase (29 ± 94%) and glucose transporter 4 (18 ± 65%)] were not significant. There was no relationship between changes in maximal oxygen uptake and the changes in the metabolic proteins. Considerable interindividual variability was seen in the magnitude of responses. The response of each enzyme was proportional to the change in SDH; individuals with a large increase in SDH also showed high gains in all other enzymes, and vice versa. Peroxisome proliferator-activated receptor γ coactivator 1α protein content increased after training, but was not correlated with changes in the metabolic proteins. In conclusion, the results revealed co-ordinated adaptation of several metabolic enzymes following endurance training, despite differences between people in the magnitude of response. Differences between individuals in the magnitude of response might reflect the influence of environmental and genetic factors that govern training adaptations.
20 citations
TL;DR: The T-allele of HIF1A P582S was associated with greater gains in V-O 2max gains following endurance training in young women, and preliminary evidence of differential muscle metabolic adaptations between genotypes is provided.
Abstract: Sequence variations in the gene encoding the hypoxia-inducible factor-1alpha, HIF1A, have been associated with physiologic function and could be associated with exercise responses. In the HIF1A P582S gene polymorphism (C1772T; rs 11549465 C/T), a single nucleotide transition from C → T alters the codon sequence from the usual amino acid; proline (C-allele), to serine (T-allele). This polymorphism was examined for association with endurance training responses in 58 untrained young women who completed a 6-week laboratory-based endurance training programme. Participant groups were defined as CC homozygotes versus carriers of a T-allele (CC vs. CT genotypes). Adaptations were examined at the systemic-level, by measuring [Formula: see text] and the molecular-level by measuring enzymes determined from vastus lateralis (n = 20): 3-hydroacyl-CoA-dehydrogenase (HAD), which regulates mitochondrial fatty acid oxidation; cytochrome C oxidase (COX-1), a marker of mitochondrial density; and phosphofructokinase (PFK), a marker of glycolytic capacity. CT genotypes showed 45% higher training-induced gains in [Formula: see text] compared with CC genotypes (P < 0.05). At the molecular level, CT increased the ratios PFK/HAD and PFK/COX-1 (47 and 3%, respectively), while in the CC genotypes these ratios were decreased (-26 and -54%, respectively). In conclusion, the T-allele of HIF1A P582S was associated with greater gains in [Formula: see text] following endurance training in young women. In a sub-group we also provide preliminary evidence of differential muscle metabolic adaptations between genotypes.
19 citations