The plateau at V˙ O2max is associated with anaerobic alleles

Objectives: This study tests the hypothesis that individuals who achieve a plateau at V˙ O2max (V˙ O2plat) are more likely to possess alleles, associated with anaerobic capacity, than those who do not. Design: A literature survey, physiological testing and genetic analysis was used to determine any association between the aerobic and anaerobic polymorphisms of 40 genes and V˙ O2plat. Methods: 34, healthy, Caucasian volunteers, completed an exercise test to determine V˙ O2max, and V˙ O2plat. 28 of the volunteers agreed to DNA testing and 26 were successfully genotyped. A literature search was used to determine whether the 40 polymorphisms analysed were associated with aerobic, or anaerobic exercise performance. Results: The literature survey enabled classification of the 40 target alleles as aerobic [11], anaerobic [24], or having no apparent association (NAA) [5] with exercise performance. It also found no previous studies linking a genetic component with the ability to achieve V˙ O2plat. Independent t-tests showed a significant difference (p < 0.001) in the ability to achieve V˙ O2plat, but no other measured physiological variable was significantly different. Pearson's χ2 testing demonstrated a highly significant association (p = 0.008) between anaerobic allele frequency and V˙ O2plat, but not with V˙ O2max. There was no association between aerobic alleles and V˙ O2plat, or V˙ O2max. Finally there were no significant differences in the allelic frequencies, observed in this study and those expected of Northern and Western European Caucasians. Conclusion: These results support the hypothesis that the ability to achieve V˙ O2plat is associated with alleles linked to anaerobic exercise capacity

Do exercise-associated genes explain phenotypic variance in the three components of fitness? a systematic review & meta-analysis

The aim of this systematic review and meta-analysis was to identify a list of common, candidate genes associated with the three components of fitness, specifically cardiovascular fitness, muscular strength, and anaerobic power, and how these genes are associated with exercise response phenotype variability, in previously untrained participants. A total of 3,969 potentially relevant papers were identified and processed for inclusion. After eligibility and study selection assessment, 24 studies were selected for meta-analysis, comprising a total of 3,012 participants (male n = 1,512; females n = 1,239; not stated n = 261; age 28 ± 9 years). Meta-Essentials spreadsheet 1.4 (Microsoft Excel) was used in creating the forest plots and meta-analysis. IBM SPSS statistics V24 was implemented for the statistical analyses and the alpha was set at p ≤ 0.05. 13 candidate genes and their associated alleles were identified, which were associated with the phenotypes of interest. Analysis of training group data showed significant differential phenotypic responses. Subgroup analysis showed; 44%, 72% and 10% of the response variance in aerobic, strength and power phenotypes, respectively, were explained by genetic influences. This analysis established that genetic variability explained a significant proportion of the adaptation differences across the three components of fitness in the participants post-training. The results also showed the importance of analysing and reporting specific gene alleles. Information obtained from these findings has the potential to inform and influence future exercise-related genes and training studies

Prior Knowledge of Trial Number Influences the Incidence of Plateau at VO2max

The purpose of this study was to assess the VO2max plateau response at VO2max during a series of pre-determined trials. METHODS: Ten male well-trained athletes (age, 23.0 ± 3.2; height, 183.3 ± 5.5 cm; mass 77.5 ± 11.1 Kg; VO2max 66.5 ± 5.0 ml.kg-1,min-1), but who were VO2max testing naïve and with prior-knowledge of trial number completed four incremental tests to volitional exhaustion, separated by ~72-h for the determination of VO2max and gas exchange threshold. Throughout all trials VO2max was recorded on a breath-by-breath basis using a pre-calibrated metabolic cart, using a plateau criterion of Δ VO2 ≤1.5 ml.kg-1.min-1 over the final 2 consecutive 30 s sampling periods. A significant difference was observed between trial-1 and trial-4 for plateau incidence (p = 0.0285) rising from 20% in trial-1 to a 70% response rate in trial-4. Furthermore a significant difference was observed for VO2dif (difference be-tween criterion value and Δ VO2) in trial-1, 1.02 ± 1.69 ml.kg-1.min-1 (p = 0.038), with non-significant differences observed for all other trials, despite a non-significant difference for VO2max across all trials (p > 0.05). Finally, a significant difference was observed for effort perception (RPE) at volitional exhaustion between trial-1 (17.7 ± 1.3) and trial-4 (19.0 ± 1.4) (p = 0.0052). These data indicate that prior-knowledge of trial number can influence the manifestation of the VO2 plateau in a group of well-trained male athletes, thereby suggesting that a form of effort control is established in order to preserve the finite anaerobic capacity

Responsiveness to endurance training can be partly explained by the number of favorable single nucleotide polymorphisms an individual possesses

Cardiorespiratory fitness is a key component of health-related fitness. It is a necessary focus of improvement, especially for those that have poor fitness and are classed as untrained. However, much research has shown individuals respond differentially to identical training programs, suggesting the involvement of a genetic component in individual exercise responses. Previous research has focused predominantly on a relatively low number of candidate genes and their overall influence on exercise responsiveness. However, examination of gene-specific alleles may provide a greater level of understanding. Accordingly, this study aimed to investigate the associations between cardiorespiratory fitness and an individual’s genotype following a field-based endurance program within a previously untrained population. Participants (age: 29 ± 7 years, height: 175 ± 9 cm, mass: 79 ± 21 kg, body mass index: 26 ± 7 kg/m2) were randomly assigned to either a training (n = 21) or control group (n = 24). The training group completed a periodized running program for 8-weeks (duration: 20-30-minutes per session, intensity: 6–7 Borg Category-Ratio-10 scale rating, frequency: 3 sessions per week). Both groups completed a Cooper 12-minute run test to estimate cardiorespiratory fitness at baseline, mid-study, and post-study. One thousand single nucleotide polymorphisms (SNPs) were assessed via saliva sample collections. Cooper run distance showed a significant improvement (0.23 ± 0.17 km [11.51 ± 9.09%], p &lt; 0.001, ES = 0.48 [95%CI: 0.16–0.32]), following the 8-week program, whilst controls displayed no significant changes (0.03 ± 0.15 km [1.55 ± 6.98%], p = 0.346, ES = 0.08, [95%CI: -0.35–0.95]). A significant portion of the inter-individual variation in Cooper scores could be explained by the number of positive alleles a participant possessed (r = 0.92, R2 = 0.85, p &lt; 0.001). These findings demonstrate the relative influence of key allele variants on an individual’s responsiveness to endurance training

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Funder: Agency for Innovation by Science and Technology, IWTFunder: U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)Funder: BOF-University of Antwerp (FFB180053) and FWO (1861419N).Abstract: The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60–65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional ‘footprint’ of these genes by over 674 kb. Using SCN1A as a case study, due to its close phenotype/genotype correlation with Dravet syndrome, we screened 122 people with Dravet syndrome or a similar phenotype with a panel of exon sequences representing eight established genes and identified two de novo SCN1A variants that now - through improved gene annotation - are ascribed to residing among our exons. These two (from 122 screened people, 1.6%) molecular diagnoses carry significant clinical implications. Furthermore, we identified a previously classified SCN1A intronic Dravet syndrome-associated variant that now lies within a deeply conserved exon. Our findings illustrate the potential gains of thorough gene annotation in improving diagnostic yields for genetic disorders

Effects of pubescence and waxes on the reflectance of leaves in the ultraviolet and photosynthetic wavebands: a comparison of a range of species

Total reflectance of ultraviolet and photosynthetically effective wavelengths was measured for a range of different leaf types. Two approaches were employed. Firstly, reflectance of monochromatic wavebands at 330 and 680 nm was measured for a total of 45 different species covering a wide range of genera. In the second, specific leaf types that displayed different degrees of reflectance were treated to remove hairs and waxes that contributed to their reflectance. Selected waxy and non-waxy leaves were also studied in more detail over the spectral range 270–500 nm. It was found that both pubescence (presence of hairs) and glaucousness (presence of a thick epicuticular wax layer) had marked effects on total reflectance. Pubescent leaves tended to be more effective in reflecting longer wavelengths than ultraviolet radiation. The extent of this effect depended on hair type. Glaucous leaves demonstrated that surface waxes were very effective reflectors of both UV and longer wavelength radiation

A novel phototropic response to supplementary ultraviolet (UV-B and UV-A) radiation in the siliquas of oilseed rape (Brassica napus L.) grown under natural conditions

An outdoor polychromatic response spectrum for the phototropic curvature of the seed pods (siliquas) of oilseed rape (Brassica napus L. cv. Rebel) has been measured. The plants were sown and grown at a location of 52° 12 N and 0° 07 E under natural daylight and ambient environmental conditions with supplementary ultraviolet (UV-B and UV-A) radiation. This radiation had central wavelengths of 313, 319, 324, 339, 348, 356 or 377 nm and was supplied daily for 10 hours at an irradiance of 0.13 W m–2. An action maximum for phototropic curvature of the siliquas was observed at 319 and 324 nm

Effects of long-term exposure to elevated UV-B radiation on the photosynthetic performance of five broad-leaved tree species

As part of an ongoing investigation into the effects of long-term UV-B radiation exposure on the growth and morphology of woody perennials, the gas exchange and photosynthesis of five common deciduous tree species were measured. All five tree species had been exposed to UV-B radiation for 5 years, in the field, at an enhancement level equivalent to an 18% ozone depletion. Measurements made during the fifth year of UV-B irradiation recorded reductions in light-saturated photosynthesis, transpiration and water use efficiencies. These changes were accompanied by marked reductions in individual leaf areas, stomatal density, stomatal conductance and carboxylation efficiency. There were no significant changes in the maximum variable fluorescence ratio, the quantum requirement of oxygen evolution, or light-saturated O2 production. Analysis of the response of net carbon assimilation to changing intercellular CO2 concentration (A/ci response) demonstrated no significant change in stomatal limitation. Reductions in photosynthesis were consistent with decreased carboxylation efficiency. Although all five tree species were similarly affected by UV-B radiation treatment, the magnitude of the responses was species-specific. These findings demonstrate the need for more long-term experimentation and also suggest that changes in water use efficiency may be a significant factor in plants' responses to UV-B radiation

The action of a range of supplementary ultraviolet (UV) wavelengths on photosynthesis in Brassica napus L. in the natural environment: effects on PS II, CO2 assimilation and level of chloroplast proteins

The effects of different wavebands of UV radiation on photosynthesis and the expression and abundance of photosynthetic proteins in oilseed rape (Brassica napus L. cv. Rebel) were investigated. Plants were grown outdoors under natural radiation (52° N, 0° E) supplemented with six wavebands of UV radiation (0.4 Wm−2) between 313 nm and 356 nm. A control treatment was centred at 343 nm. Exposure to supplementary UV-A radiation (320–400 nm) had no significant effects, however UV-B radiation, centred at 313 nm, caused a marked reduction in photosynthesis. This decrease was related to a reduction in the initial carboxylation velocity of Rubisco which was further correlated with a large reduction in the expression and abundance of both large and small subunits of Rubisco. These results indicate a molecular mechanism behind UV-B induced reductions in photosynthesis per unit area in plants grown under field conditions