Effect of dietary polyunsaturated fatty acids and Vitamin E on serum oxidative status in horses performing very light exercise

In sporting horses the use of dietary polyunsaturated fatty acids (PUFAs) could enhance performance because these fatty acids are very important in membrane permeability, and in particular they seem to increase the possibility of long chain fatty acids entering mythochondria to be burnt. The composition of cellular membranes and lipoprotein fatty acids com- position is strictly related to dietary fat quality; percentages of polyunsaturated fatty acids and amount of antioxidants also affect tissue susceptibility to lipid peroxidation. Six horses were used in a latin square design in which three homogeneous groups were subsequently assigned three dif- ferent dietary treatments for one month each: Control group (C): basic diet; Oil group (O): Basic diet + 200g/day oil rich in PUFAs (Crossential GLA TG20, Croda ®); Vitamin E group (O+E): basic diet + 200 g/day oil rich in PUFAs (Crossential GLA TG20, Croda ®) + 5 g/day α-toco- pheryl-acetate (Egon-E, Acme ®). At the end of each experimental period blood samples were taken by jugular vein puncture. Serum oxidative status was evaluated by TBARs and d-ROMs assessment. Oxidative markers showed the high- est mean values for the oil group, even if no statistically significant differences were found

Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity

ContextSeveral studies demonstrated that obese children have higher TSH than normal-weight children. The polymorphism rs4704397 in the phosphodiesterase 8B (PDE8B) gene showed an association with TSH.Objectivesi) To assess the effect of PDE8B on TSH in obese children; ii) to dissect the role of obesity degree in modulating this association; and iii) to stratify the individual risk to show hyperthyrotropinaemia according to PDE8B genotype.MethodsEight hundred and sixty-seven Italian obese children were investigated. Clinical data and thyroid hormones were evaluated and the PDE8B rs4704397 was genotyped.ResultsPDE8B A/A homozygous subjects showed higher TSH (P=0.0005) compared with A/G or G/G. No differences were found for peripheral thyroid hormones. Among A/A children, 22% had hyperthyrotropinaemia, compared with 11.6% of heterozygotes and 10.8% of G/G (P=0.0008). Consistently, A/A had an odds ratio (OR) to show abnormal TSH level of 2.25 (P=0.0004). Body mass index (BMI) appeared correlated with TSH (P=0.0001), but the strength of the effect of PDE8B on TSH was independent of BMI (P=0.1).Children were subdivided into six groups according to obesity degree and genotypes. PDE8B A/A with BMI SDS above 3 had the highest OR (OR 2.6, P=0.0015) to have hyperthyrotropinaemia, whereas G/G with BMI SDS below 3 showed the lowest possibilities (OR 0.3, P=0.005).ConclusionsWe have shown: i) in obese children, PDE8B is associated with TSH; ii) the interaction between adiposity and PDE8B on TSH is not synergistic, but follows an additive model; and iii) impact of this association in the stratification of individual risk to have hyperthyrotropinaemia

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes

Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19