ANABOLIC-ANDROGENIC STEROIDS SIGNALING

Androgens exert their effects on various parts of the body, including muscles, bones, hair follicles in the skin, liver and kidney, reproductive, hematic, immune and nervous systems. The effects are modulated by specific cellular "steroid-converting" enzymes, located inside target tissues. All the anabolic steroids currently used are derivates of testosterone or changes of its structure. The most important esterified forms of testosterone include the propionate, cipionate, enhantate and undecanoate ones. The mechanism of action of AAS has not been fully elucidated and it is currently subject of many studies. Several mechanism of action have been proposed to identify the path activated by AAS. Some, like oximetholone, does not bind the androgen receptors: it is assumed that these steroids act after a biological transformation into more active compounds. The 5 alpha-reductase, for example, plays a central role in their mechanism of action; on the other hand, aromatase is responsible for the conversion of AAS in female sex hormones such as estradiol and estrone, which bind to the estrogen receptor, forming estrogen-receptor complex. Steroid hormone receptors (SHRs) are members of the superfamily of nuclear and steroid receptors. In particolar, the functions of the androgen receptors (hAR) involving transciption factors are generally regulated by specific steroid ligands, that is androgens and selective androgen receptor modulators (SARMs)

Relevance of lactate level detection in migrane and fibromyalgia

The aim of this study was to determine the blood lactate levels in healthy and pathological subjects, particularly with migraine and fibromyalgia. Moreover we investigated the possible correlation between lactate concentration, postural stability and balance disorders; the composition of the groups were: migraine (n = 25; age 49.7 +/- 12.5), fibromyalgia (n = 10; age 43.7 +/- 21.2), control group (n = 16 age 28.52 +/- 2.4). The results showed that patients with fibromyalgia (FG) had higher lactate levels compared to migraine (MG) and control group (CG) (mean +/- sd: FG = 1.78 +/- 0.9 mmol/L; MG = 1.45 +/- 1 mmol/L; CG = 0,85 +/- 0,07 mmol/L). The same situation was highlighted about the sway path length with eyes closed (FG = 518 +/- 195 mm; MG = 465 +/- 165 mm; CG = 405 +/- 94,72 mm) and with eyes open (FG = 430 +/- 220 mm; MG = 411 +/- 143 mm; CG = 389 +/- 107 mm). This can be explained by the fact that energy-intensive postural strategies must be used to optimize both static and dynamic coordination, in particular with repeated contractions of tonic oxidative muscle cells responsible for postural control

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis ofABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises thesplicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region,which is crucial for ABCC6 function

TREND OF DRUG ABUSE IN 2011–2014 IN ITALY

Doping, although was born as a medication and not with the purpose of enhancing performance, is a widespread practice in all sports, between amateur and gym-goers. The Italian sports federations were in second place worldwide for positive doping-test, after Russia. This review focuses on the analysis of data collected by Italian National Olympic Committee (CONI) in the 2012–2014 period, showing that the most commonly used substances were anabolic androgenic agents, glucocorticoids, diuretics and stimulants. Prevention in doping could be a key to limit the damage caused by this harmful practice both, for the physical health and the athlete’s moral integrity and anti-doping campaigns should be direct as much as possible to young people, since about two-thirds of adolescents appear to be dissatisfied with their body. Even coordination between the various professionals that surround athletes could help fight doping by planning specific training and adapted to the individual athlete, taking into account the actual physical limitations and physical features of each

OXIDATIVE STRESS MARKERS ASSOCIATED WITH MIDDLE DISTANCE RUNNING PERFORMANCE

The aim of this study was to understand the mechanism underlying the physiological adaptation of a kind purely aerobic workout. Particular attention has also been given to the analysis of oxidative stress by detecting some enzymatic blood parameters. We investigate the effect of 2 months of training on middle distance running (800 meters and 1500 meters) agonistic athletes; nine active specifically trained males of mean (± SD) age 19,9 years. The physiological characteristics of middle runners are different from those sprinters and long distance runners because include a variety of aerobic and anaerobic capabilities. Two weeks prior to the 2 months period of exercise, subjects were tested for VO2max during a graded, treadmill test with the Cosmed FitMate metabolic device (Cosmed, Italy). Antropometric parameters were detected used a Bioimpedance analyzer (BF 302 Ormon BIA). A blood sample was collected in the morning and were collected by a clinical specialized center to analyze: triglycerides, total cholesterol, G.O.T. and G.P.T. transaminase, γ-GT, CPK and CK-MB, as well as lipid profile. All these tests were performed before and after the two months of training period. The results obtained suggest that the endurance training, as it is high oxygen consumption, should increase reactive oxygen species (ROS), but it has been shown that exercise leads to increased activation of antioxidant defenses. Infact, serum levels of gamma-glutamyltransferase (GGT) enzyme, which plays a key role in the metabolism of extracellular reduced glutathione (2) was not increased. However, a classic cardiac biomarkers (1), CK-MB as well as total CK was analyzed and while the total CK after two months of training increased, the CK-MB isoform decrease, in a significant statistical way. Even the emathological parameters were analyzed and there were the variations overall on neutrophils and monocytes value. These two cell type are involved in the infection respons. An antropometric parameter that changed after two months of training, was the weight. Infact after statistical analysis, the P value was < 0,0001, considered extremely significant (59,3±5,4 Kg before training; 58,1±5,2 Kg after training). Finally, put together all the results, we can say that middle distance runners are subject at not high oxidative and biological stress; infact there were no change in γ-GT value, that usually is involved in the oxidative stress as well as a decrease of CK-MB value, that usually associated with cardiac injury. These are preliminary results that need to confirm with other studies using a larger sample of subjects or comparing with the runners that are involved in a different running distance (sprinters or long distance runners)

The purpose of lactate level detection in migraine and fibromyalgia

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PPARα gene variation and phisycal performance in italian soccer players

PURPOSE: One of the genes of the health-related fitness phenotype is a PPARα coding for peroxisome proliferator activator receptor alpha, a central regulator of expression of genes involved in fatty acid metabolism. The aim of our research was to study the role of polymorphism of PPARα gene in performance enhancing in Italian soccer players. METHODS: Sixty professional soccer players and thirty sedentary volunteers were enrolled in the study. Samples of venous blood were obtained at rest in the morning by conventional clinical procedures. Serum was collected and lipid profile was measured by using a commercial kit. An aliquote of anticoagulant-treated blood was used to prepare genomic DNA from mononuclear cells. The polymorphic site in PPARα intron 7 was scanned by using PCR-RFLP protocol with Taq I enzyme. RESULTS: We found variations among genotype distribution of PPARα in professional soccer players versus sedentary volunteers. To enphatyzed this correlation, we also investigated lipidic profile variation. CONCLUSIONS: Our results evidenced an high expression of G allele as well as GG genotype in accordance with other studies that associate this genotype with endurance performance. So PPARα G allele may be considered an endurance relates allele. We can explain this one because PPARα is an important factor that regulate the balance between fatty acid and glucose metabolism. Moreover, we analyzed the correlation between G allele distribution and athletes lipid profile but we didn’t find any correlation

Does a specific genetic background influence endurance or power-orientated phenotypes?

The purpose of this study was to determine the probability of individuals having the “best” mitochondrial biogenesis related polygenic profile that could increase performance. We compared polygenic profile analyzing several polymorphisms on sixty professional italian soccer players, considered “power-oriented athletes” and thirty sedentary volunteers. Samples of venous blood were obtained by standard clinical procedures and anticoagulant-treated blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP protocols with different enzyme. Furthermore, a cloted part of venus blood sample was used to obtain serum from which we analyzed total cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol and triglycerides, by using a kit in a chinetic enzyme analyzer. We computed an “endurance genotype score” (EGS), related to mitochondrial biogenesis, from 0 to 100, from the accumulated combination of the polymorphisms in the PPARα-PPARGC1A-NRF2 (A/G; C/T) pathway; moreover, we analyzed the ACTN3 polymorphism. Particularly, as regards PPARα we also analyzed the lipid profile (total cholesterol, triglycerides, HDL and LDL) because it is an important factor that regulate the balance between fatty acid and glucose metabolism. The results evidence an higher EGS and a variation of genotype distribution of the analyzed polymorphisms in professional soccer players compared with sedentary healty volunteers. Moreover, our study shows that PPARα genotype distribution is not related with a variation in the values of the lipid profile. In conclusion professional soccer players possess “theoretically” a genetic background that is more suitable for mitochondrial biogenesis