Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In patients with cystic fibrosis (CF), physical capacity (PC) has been correlated with mortality risk. In turn, PC is dependent on genetic factors. This study examines several polymorphisms associated with PC and health-related phenotype traits (VO2peak, FEV1, FVC, PImax and muscular strength) in a group of children with CF (n = 66, primary purpose). The same analyses were also performed in a control group of healthy children (n = 113, secondary purpose). The polymorphisms determined were classified as muscle function polymorphisms (ACE rs1799752; AGT rs699; ACTN3 rs1815739; PTK2 rs7843014 and rs7460; MSTN rs1805086; TRHR rs7832552; NOS3 rs2070744) or energy metabolism polymorphisms (PPARGC1A rs8192678; NRF1 rs6949152; NRF2 rs12594956; TFAM rs1937; PPARD rs2267668; ACSL1 rs6552828). No significant polymorphism/phenotype correlations were detected in children with CF, with marginal associations being observed between NOS3 rs2070744 and VO2peak and FEV1, as well as between PPARGC1A rs8192678 and FEV1. Overall, similar findings were observed in the control group, i.e., no major associations. The PC-related polymorphisms examined seem to have no effects on the PC or health of children with CF.
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PMID:Physical-capacity-related genetic polymorphisms in children with cystic fibrosis. 2505 Dec 5

The aim was to investigate the effect of training, sex, age and selected genes on physiological and performance variables and adaptations before, and during 6 months of training in well-trained cross-country skiers. National-level cross-country skiers were recruited for a 6 months observational study (pre - post 1 - post 2 test). All participants were tested in an outside double poling time trial (TTDP), maximal oxygen uptake in running (RUN-VO2max), peak oxygen uptake in double poling (DP-VO2peak), lactate threshold (LT) and oxygen cost of double poling (CDP), jump height and maximal strength (1RM) in half squat and pull-down. Blood samples were drawn to genetically screen the participants for the ACTN3 R577X, ACE I/D, PPARGC1A rs8192678, PPARG rs1801282, PPARA rs4253778, ACSL1 rs6552828, and IL6 rs1474347 polymorphisms. The skiers were instructed to train according to their own training programs and report all training in training diaries based on heart rate measures from May to October. 29 skiers completed all testing and registered their training sufficiently throughout the study period. At pre-test, significant sex and age differences were observed in TTDP (p < 0.01), DP-VO2peak (p < 0.01), CDP (p < 0.05), MAS (p < 0.01), LTv (p < 0.01), 1RM half squat (p < 0.01), and 1RM pull-down (p < 0.01). For sex, there was also a significant difference in RUN-VO2max (p < 0.01). No major differences were detected in physiological or performance variables based on genotypes. Total training volume ranged from 357.5 to 1056.8 min per week between participants, with a training intensity distribution of 90-5-5% in low-, moderate- and high-intensity training, respectively. Total training volume and ski-specific training increased significantly (p < 0.05) throughout the study period for the whole group, while the training intensity distribution was maintained. No physiological or performance variables improved during the 6 months of training for the whole group. No differences were observed in training progression or training adaptation between sexes or age-groups. In conclusion, sex and age affected physiological and performance variables, with only a minor impact from selected genes, at baseline. However, minor to no effect of sex, age, selected genes or the participants training were shown on training adaptations. Increased total training volume did not affect physiological and performance variables.
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PMID:No Change - No Gain; The Effect of Age, Sex, Selected Genes and Training on Physiological and Performance Adaptations in Cross-Country Skiing. 3319 89