ABSTRACT
ABSTRACT: We investigated the association between high-density lipoprotein cholesterol (HDL-C) and rs2014355 variant in the gene, short-chain acyl-coenzyme A dehydrogenase (ACADS) based on exercise habits.Data collected between 2008 and 2015 for individuals aged 30 to 70âyears were available in the Taiwan Biobank (TWB) database. Backward stepwise linear regression was used to evaluate the associations of rs2014355 and exercise with HDL-C levels.We analyzed data of 5515 physically active and 4169 inactive biobank participants. The HDL-C concentrations were higher in the exercise compared to no exercise group (beta value, ß = 1.79856; Pâ<â.0001). We observed that the test for interaction was significant for the ACADS rs2014355 variant and exercise (P for interaction =.0412). Multivariate analyses showed significant association between TC+CC genotype and HDL-C in the exercise (ßâ=â1.09785; P value = .0146) compared to the no-exercise group (ßâ=â-0.03754, Pâ=â.9154).In summary, the association between HDL-C and exercise differed significantly with respect to ACADS rs2014355 genotypes. Compared to the TT genotype, the TC+CC genotype together with exercise was associated with higher levels of HDL-C.
Subject(s)
Acyl-CoA Dehydrogenase/analysis , Acyl-CoA Dehydrogenase/pharmacology , Cholesterol, HDL/analysis , Exercise/physiology , Acyl-CoA Dehydrogenase/blood , Adult , Aged , Asian People/genetics , Chi-Square Distribution , Female , Humans , Male , Middle Aged , TaiwanABSTRACT
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. Prospective population-wide neonatal screening for MCAD deficiency was performed in the northern part of The Netherlands. In newborns with blood octanoylcarnitine (C(8:0)) concentrations > or =0.3 micromol/L, clinical and laboratory follow-up was initiated, including MCAD enzymatic measurements which played a decisive role. In a 2-year period, 66 216 newborns were investigated for MCAD deficiency and follow-up was initiated in 28 newborns. True-positives (n = 14) were identified based upon MCAD enzyme activity <50%, measured with hexanoyl-CoA as substrate. The observed prevalence of MCAD deficiency was 1/6600 (95% CI: 1/4100-1/17 400). In addition to an elevated C(8:0) concentration, a C(8:0)/C(10:0) molar ratio >5.0 turned out to differentiate between false-positives and true-positives. Measurement of MCAD activity using phenylpropionyl-CoA as a substrate further discriminated between newborns with MCAD deficiency and so-called mild MCAD deficiency. To summarize, neonatal screening for MCAD deficiency in the northern part of The Netherlands resulted in the predicted number of affected newborns. Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results.
Subject(s)
Acyl-CoA Dehydrogenase/deficiency , Lipid Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Acyl Coenzyme A/metabolism , Acyl-CoA Dehydrogenase/analysis , Acyl-CoA Dehydrogenase/genetics , Acyl-CoA Dehydrogenase/metabolism , Cells, Cultured , DNA Mutational Analysis , False Positive Reactions , Follow-Up Studies , Genotype , Humans , Infant, Newborn , Leukocytes/enzymology , Lipid Metabolism, Inborn Errors/epidemiology , Lipid Metabolism, Inborn Errors/genetics , Lymphocytes/enzymology , Molecular Diagnostic Techniques/standards , Netherlands , Pilot Projects , PrevalenceABSTRACT
The objective of the present study was to relate changes in certain muscle characteristics and indicators of metabolism in response to endurance training to the concomitant changes in time to exhaustion (T(lim)) at a work rate corresponding to maximal oxygen uptake VO(2speak). Eight healthy sedentary subjects pedalled on a cycle ergometer 2 h a day, 6 days a week, for 4 weeks. Training caused increases in VO(2peak) (by 8%), T(lim) (from 299 +/- 23 s before to 486 +/- 63 s after training), citrate synthase and 3-hydroxyl-acyl-CoA dehydrogenase (HAD) activities (by 54% and 16%, respectively) and capillary density (by 31%). Decreases in activity of lactate dehydrogenase (LDH) and muscle type of LDH (by 24% and 28%, respectively) and the phosphofructokinase/citrate synthase ratio (by 37%) were also observed. Respiratory exchange ratio (RER) tended to be lower (P < 0.1) at all relative work rates after training while the corresponding ventilation rates (VE) were unchanged. At the same absolute work rate, RER and (VE) were lower after training (P < 0.05). The improvement of T(lim) with training was related to the increases in HAD activity (r = 0.91, P = 0.0043), and to the decreases in RER calculated for Pa(peak) (r = 0.71, P = 0.0496). The present results suggest that the training-induced adaptations in fat metabolism might influence T(lim) at a work rate corresponding to VO(2peak) and stimulate the still debated and incompletely understood role of fat metabolism during short high-intensity exercise.
