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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 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.

BACKGROUND Sprint interval training is a popular workout modality. Studies have eluded to a positive effect on maximal oxygen uptake, however little is known about the mechanistic basis of this adaptation. Therefore, the purpose of this study was to determine the effects of a short-term high-intensity sprint interval training (SIT) intervention on VO2max through quantification of both the respiratory and hemodynamic responses. METHODS Thirty-six physically active participants undertook 4 weeks of either cycling-based SIT (8×20 s at 170% P-VO2max with 10 s recovery) or continuous exercise training (CET) (30 min at 70% P-VO2max) 3 times per week. VO2max, blood-based markers and hemodynamic responses were assessed pre and post the intervention period. VO2max was assessed using breath-by-breath open circuit spirometry, while hemodynamic responses were monitored using thoracic impedance cardiography. RESULTS VO2max exhibited a non-significant 4.1% increase (ES=0.24) for SIT with 7.0% P=0.007 (ES=0.40) increase for CET. Hemodynamic responses (maximal cardiac output, maximal stroke volume) displayed non-significant responses for CET and SIT while a-vO2dif-max increased from 15.8±4.8 to 18.3±2.9 mL/100 mL) (P=0.02) (ES=0.63) in SIT. CONCLUSIONS VO2max is a function of maximal cardiac output and a-vO2dif-max, so for a meaningful change to occur in cardiorespiratory fitness, there must be a concomitant increase in O2 delivery. This study demonstrates that a low volume SIT intervention evokes peripherally mediated responses (a-vO2dif) and anaerobic substrate utilization rather than O2 delivery components. Future works should address the time course of the responses and when assessing VO2max-based responses that due attention be given to the hemodynamic responses as means of quantification of the response.

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.

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.

The early infantile epileptic encephalopathies (EIEE) 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 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 novel putative transcript models. The extended transcriptional footprint of these genes allowed for 294 intronic or intergenic variants, found in human mutation databases, to be reclassified as exonic, while a further 70 intronic variants were reclassified as splice-site proximal. 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 novel exon sequences representing eight established genes and identified two de novo SCN1A variants that now, through improved gene annotation can be ascribed to residing among novel exons. These two (from 122 screened patients, 1.6%) new molecular diagnoses carry significant clinical implications. Furthermore, we identified a previously-classified SCN1A intronic Dravet-associated variant that now lies within a deeply conserved novel exon. Our findings illustrate the potential gains of thorough gene annotation in improving diagnostic yields for genetic disorders. We would expect to find new molecular diagnoses in our 191 genes that were originally suspected by clinicians for patients, with a negative diagnosis.

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.

This study investigates heart rate (HR), in 11 young adults (22.4±3.21yr), at V̇O2max, to ascertain whether measured maximal heart rate (HRmax), as determined by a plateau in HR (HRplat), can reliably confirm V̇O2max. V̇O2max and HRplat were determined, using the parameters of a V̇O2≤50 ml•min−1 and a ∆HR≤2b•min−1, respectively, over the final 60 s of sampling. V̇O2 was also independently determined using a verification phase protocol. A HRplat was achieved by 91% of participants (∆HR=1.3±1b•min−1) and critically the time at which HRmax was reached coincided with that at which V̇O2max was achieved. Moreover RER and ΔRER criteria were reached significantly earlier (p

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 between 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.

Summary Differences in carbohydrate metabolism between the C3 and CAM forms of Mesembryanthemum crystallinum L. were demonstrated and studied. The CAM form accumulated less starch (defined as boiling water-insoluble polyglucan) than the C3 form at high irradiances, but at limiting light diverted a greater proportion of photosynthate to starch. Starch accumulation was more sensitive to the effects of exogenous inorganic phosphate in the C3 form than in the CAM form. Following induction of CAM by salt treatment, the CAM form ceased to accumulate glucose and fructose and commenced accumulating pinitol. Pinitol is not involved directly in CAM but may act as a compatible osmoregulatory solute. Concentrations of fructose 2,6-bisphosphate in the C3 and CAM forms were similar, but the cytosolic fructose 1,6-bisphophatase extracted from the two forms was markedly different in sensitivity to this effector. The two enzymes also differed both in their sensitivity to inorganic phosphate and in their affinity for fructose 1,6-bisphosphate. The concentrations of key intermediates of carbohydrate metabolism, fructose and glucose 6-phosphate and fructose 1,6-bisphosphate were measured in the C3 and CAM forms. Concentrations of fructose 1,6-bisphosphate were higher in the CAM form, whereas those of glucose and fructose 6-phosphate were higher in the C3 form. The differences observed are discussed in relation to the regulation of storage carbohydrate metabolism in the two forms. A partial explanation is offered for the differences in the characteristics of starch accumulation between the C3 and CAM forms through the influence of the effector fructose 2,6-bisphosphate on the enzyme fructose 1,6-bisphosphatase.

Polyclonal antibodies raised in rabbits to a mixture of sodium-dodecyl-sulphate-denatured C- and allo-phycocyanin, isolated from Anabaena cylindrica, cross-react with 124-kilodalton (kDa) phytochrome from etiolated oats, in enzyme-linked immunosorbent assays and on Western blots. The component(s) of the anti-phycocyanin serum that cross-reacts with phytochrome appears to be specific for the red-absorbing form of phytochrome (Pr). These antibodies can be detached from Pr by irradiation with red light, and thus show photoreversible binding. This property has been used to immunopurify the anti-phytochrome component from the antiserum using red light as the eluting agent. Competition assays and epitope-mapping studies indicate that the anti-phytochrome component may bind to a site located between 6 and 10 kDa from the amino-terminus of etiolated oat phytochrome.

The effects of UV-B exclusion and enhancement of solar radiation on photosynthesis of the two phanerogams which occur in the maritime Antarctic, Deschampsia antarctica and Colobanthus quitensis, and the moss Sanionia uncinats were investigated. Data on air temperature and solar radiation illustrate a drastic seasonal variation. Daily O3 column mean values and UV-B measured at ground level document the occurrence of the O3“hole” in the spring of 1997, with a concomitant increase in UV-B. The grass, D. antarctica, exhibited a broad temperature optimum for photosynthesis between 10–25°C while photosynthesis did not saturate even at high irradiance. The high water use efficiencies measured in the grass may be one of the features explaining the presence of this species in the maritime Antarctic. The net photosynthesis response to intercellular CO2 (A/ci) for D. antarctica was typical of a C3 plant. Exposure to a biologically effective UV-B irradiance of 0.74 W M-2 did not result in any significant change in either the maximum rate of photosynthesis at saturating CO2 and light, or in the initial carboxylation efficiency of Rubisco. (Vc,max). Furthermore while ambient (or enhanced) solar UV-B did not affect photochemical yield, measured in the field, of C. quitensis and D. antarctica, UV-B enhancement did affect negatively photochemical yield in S. uncinata. In D. antarctica plants, exposure to UV-B at low irradiances elicited increased flavonoid synthesis. The observed effects of UV-B enhancement on the moss (decreased photochemical yield) and the grass (increase in flavonoids) require further, separate investigation.