ACTN-3 and ACE genotypes in elite male Italian athletes

The ACE I/D and the ACTN-3 R577X polymorphisms are the most studied genes associated with elite athlete status, even if this association has been often conflicting. The aim of the present study was to investigate the association between the ACE and the ACTN3 genotypes and elite performance in Italian male athletes. The ACTN-3 R577X and the ACE I/D genotype distributions of 59 elite male Italian athletes practicing gymnastics (G; n = 17), 100 m-400 m running (R; n = 12), and playing soccer (S; n= 30) were compared with controls from Italian (C; n = 31) populations. For ACE distribution, athletes did not differ from controls (G, X2 = 0.37, df = 2, p = 0.82; R, X2 = 1.90, df = 2, p = 0.45; S, X2 = 1.48, df = 2, p = 0.47) and the DD genotype was at very high frequency in all groups (G = 53%, R= 50%, S = 60%, C = 45%). For ACTN-3 distribution, elite gymnasts showed a significant difference from controls (X2 = 6.57, df = 2, p = 0.03), showing an absence of XX genotype. Soccer players and runners did not differ from controls in ACTN-3 genotype distribution (R, X2 =0.43, df = 2, p = 0.80; S, X 2 = 1.25, df = 2, p = 0.53). Even if the ACE DD genotype is often positively associated with elite sprint/power athlete status, its high frequency in Italian populations eliminates the possibility of its exclusive association in Italian athletes. The results of ACTN3 genotypes suggest that RR genotype of ACTN-3 gene is a determinant of elite gymnasts status but it is not the key factor for achieving a top-level performance in soccer or track events

Somatotype of Elite Italian Gymnasts

The somatotyping method is especially helpful in sports in which the body could directly influence the biomechanics of movements and the performance’s results. The purpose of this study was to determine the somatotype of elite Italian gymnasts and to compare it in terms of competition levels. The sample comprised 64 elite gymnasts (42 females (F), somatotype 1.4-4.4-3.2; and 22 males (M), somatotype 1.6-6.3-2.1) belonging to the Italian National Artistic Gymnastic Team (2007) at different competition levels: Allieve, Junior, and Senior. Mean whole somatotypes, by competition levels, were not significantly different in both sexes (Female gymnasts: Allieve, 1.3-4.6-3.3; Junior, 1.3-4.2-3.6; Senior, 1.7-4.2- 2.7; Male gymnasts: Junior, 1.5-6.3-2.5; Senior, 1.7-6.3-1.6). Male Junior gymnasts exhibited greater ectomorphy than Senior athletes (F 1,20 =7.75, p<0.01). Compared to other elite athletes male and female gymnasts tend to be less endo- morphic and more mesomorphic. This study highlighted the peculiarities of the somatotype of Italian elite gymnasts and their strong homogeneity, evident also from the low values of somatotype attitudinal mean (SAM). The results emphasize the need for a specific somatotype to reach an elite level in sport and the need to integrate the somatotype analysis between the scientific instruments for selecting talent also in artistic gymnastics

Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia

AIMS: Little is known about patients with right bundle branch block (RBBB)-ventricular tachycardia (VT) and arrhythmogenic cardiomyopathy (ACM). Our aims were: (i) to describe electrocardiogram (ECG) characteristics of sinus rhythm (SR) and VT; (ii) to correlate SR with RBBB-VT ECGs; and (iii) to compare VT ECGs with electro-anatomic mapping (EAM) data. METHODS AND RESULTS: From the European Survey on ACM, 70 patients with spontaneous RBBB-VT were included. Putative left ventricular (LV) sites of origin (SOOs) were estimated with a VT-axis-derived methodology and confirmed by EAM data when available.  Overall, 49 (70%) patients met definite Task Force Criteria. Low QRS voltage predominated in lateral leads (n = 37, 55%), but QRS fragmentation was more frequent in inferior leads (n = 15, 23%). T-wave inversion (TWI) was equally frequent in inferior (n = 28, 42%) and lateral (n = 27, 40%) leads. TWI in inferior leads was associated with reduced LV ejection fraction (LVEF; 46 ± 10 vs. 53 ± 8, P = 0.02). Regarding SOOs, the inferior wall harboured 31 (46%) SOOs, followed by the lateral wall (n = 17, 25%), the anterior wall (n = 15, 22%), and the septum (n = 4, 6%). EAM data were available for 16 patients and showed good concordance with the putative SOOs. In all patients with superior-axis RBBB-VT who underwent endo-epicardial VT activation mapping, VT originated from the LV. CONCLUSIONS: In patients with ACM and RBBB-VT, RBBB-VTs originated mainly from the inferior and lateral LV walls. SR depolarization and repolarization abnormalities were frequent and associated with underlying variants

New genetic model for predicting phenotype traits in sports

The aim of the current study was to construct a genetic model with a new algorithm for predicting athletic-performance variability based on genetic variations. Methods: The influence of 6 polymorphisms (ACE, ACTN-3, BDKRB2, VDR-ApaI, VDR-BsmI, and VDR-FokI) on vertical jump was studied in top-level male Italian soccer players (n = 90). First, the authors calculated the traditional total genotype score and then determined the total weighting genotype score (TWGS), which accounts for the proportion of significant phenotypic variance predicted by the polymorphisms. Genomic DNA was extracted from saliva samples using a standard protocol. Genotyping was performed using polymerase chain reaction (PCR). Results: The results obtained from the new genetic model (TWGS) showed that only 3 polymorphisms entered the regression equation (ACTN-3, ACE, and BDKRB2), and these polymorphisms explained 17.68-24.24% of the verticaljump variance. With the weighting given to each polymorphism, it may be possible to identify a polygenic profile that more accurately explains, at least in part, the individual variance of athletic-performance traits. Conclusions: This model may be used to create individualized training programs based on a player's genetic predispositions, as well as to identify athletes who need an adapted training routine to account for individual susceptibility to injury

La deriva genetica ed il flusso genico interno hanno condizionato l’attuale struttura biologica della popolazione sarda?

The biological peculiarity of Sardinia among the European and Mediterranean populations find a support in the consequences of the action of some microevolutionary factors that acted in time (founder effect, bottleneck, isolation, and internal gene flow). Moreover, the biological peculiarity of the Sardinian population located in the so-called “Archaic area” of the island could be a consequence of genetic drift and isolation actions. This hypothesis is supported by the highest incidence in the island of the mutation M26 of Y chromosome (33-41%) with respect to the other populations from Europe and Mediterranean basin. This high frequency could be due to the diffusion of men carrying that mutation, split by the continental ancestor group after the Last Maximum Glacial. The heterogeneity among the Sardinian subpopulations find a support in several decreases of the population, particularly charged to the ones of internal area of the island, deduced by historical demographic data of Census carried out in the 300 during the Pisan domination, and later by the Spaniards during the 600. In conclusion the historical demographic data allow to explain adequately the present biological structure of Sardinian population

Energy expenditure during competitive latin american dancing simulation

Objective: The aims of this study were to estimate the energy expenditure (EE) and the intensity of physical activity (PA) during a competitive simulation of Latin American dancing and to evaluate the differences in PA and EE values between the sexes, between different dance types, and between the various phases of the competition. Methods: Ten Italian dancers (five couples, 5 males and 5 females) competing in Latin American dancing at the international level were examined in this study. The EE (kcal) was measured during the semifinal and final phases of the competition using the SenseWear Pro Armband (SWA). Paired-sample t-tests were used to determine differences in the metabolic equivalent (MET) and EE values between the semifinal and final phases and between each dance. One-way analysis of variance was used to analyze the differences in the MET and EE values between the sexes. Results: The intensity of PA during the dance sequence ranged from moderate (3 to 6 METs) to vigorous (6 to 9 METs). The male dancers had higher EE values than the female dancers during all phases of the simulation. Similar MET values were observed in both sexes. The PA intensity during the finals phase was vigorous for 56% of the time of dance. Of all the dance styles, the rumba had the lowest MET and EE values. Conclusion: Our results demonstrate that competitive Latin American dancing is a heavy exercise and suggest that monitoring variables during normal training can improve training protocols and the dancers' fitness levels