Objective: Malocclusion is a complex musculoskeletal trait, with muscle playing an integral role in vertical facial development. A single nucleotide polymorphism (SNP) produces the R577XX nonsense mutation in the alpha-actinin-3 (ACTN3) gene, creating a stop codon and loss of its protein. With loss of ACTN3, alpha-actinin-2 (ACTN2) is upregulated. Calsarcins, known inhibitors of calcineurin activation, preferentially bind ACTN2 leading to a surge in free calcineurin. The increase in calcineurin activity produces the phenotypic shift of fast muscle fibers toward the slow myogenic program seen in the ACTN3 null genotype (Seto et al., 2013). Here, we have tested whether calsarcin gene expression is affected by ACTN3 genotypes in human masseter muscle. Methods: Subjects undergoing orthodontic treatment and orthognathic surgery were recruited from the University of Lille, Department of Oral and Maxillofacial Surgery in Northern France. During the bilateral sagittal split osteotomy, masseter muscle samples were collected from the discarded section of deep anterior superficial masseter muscle, snap frozen, and shipped to Dr. Sciote’s lab at Temple University. RNA from masseter muscle samples was isolated from 41 subjects using TRIzolTM reagent. MYOZ gene expression was quantified by RT-PCR using an adult skeletal muscle reference standard (commercially prepared skeletal muscle RNA; Ambion, Inc), and individual primer-probe sets for MYOZ1, MYOZ2, MYOZ3, and HPRT1 (utilized for normalization of data). ANOVA and unpaired t-tests were used to determine the significance of expression differences between MYOZ genes and by ACTN3 R577X genotypes, as well as by malocclusion classes. Pearson analyses were used to determine correlations between MYOZ expression and fiber type mean percent occupancies. Results: The main aim of this project was to determine whether expression of the three calsarcin genes, MYOZ1, 2, and 3, differs between subjects with RR, RX and XX genotypes for the ACTN3 gene, as well as between sagittal and vertical classes of malocclusion, asymmetries and TMD. Differences were found for MYOZ3 expression where relative quantities in males, but not females, decreased progressively from the ACTN3 RR, to RX, and XX genotypes. Among subjects with the RX genotype, expression differed significantly between males and females by an unpaired t-test. A statistically significant difference was detected between MYOZ2 and Class II, Class III malocclusions (p=0.05). Sagittal differences were compared further by ANOVA analyses with a statistically significant difference detected for MYOZ3 with a probability of 0.02. Correlation analyses comparing fiber type mean % occupancy with calsarcin gene expression revealed a significant positive relationship between MYOZ2 and type I (slow-twitch) fibers. Correspondingly, a significant correlation of MYOZ2 expression with type IIA and IIX (fast-twitch) fibers was negative. Conclusions: The greatest relative quantity of RNA for the three calsarcin genes was found in MYOZ3, suggesting more calsarcin-3 may be needed in masticatory muscle structure and function than other calsarcin isoforms. Alternatively, high expression of MYOZ3 in the masseter samples may indicate that there are relatively greater amounts of that isoform in cranial muscle than in the limb skeletal muscle standard used in these studies. Also, relative quantities of MYOZ3 expression in males decreased progressively from the ACTN3 RR, to RX, and XX genotypes. While this data may suggest that the ACTN3 R577X polymorphism may affect MYOZ3 expression in males of the malocclusion patient population, an increased sample of male subjects would be needed to determine if this trend has true significance. Expression of MYOZ2 (calsarcin-1) was strongly correlated with slow fiber-type occupancy in masseter muscle of our patient population. The muscle-specific expression of each calsarcin may lend to the understanding of this result. MYOZ2 is the only isoform found in both cardiac muscle and slow-twitch skeletal muscle, while MYOZ1 and MYOZ3 are both found in skeletal muscle with a predilection towards fast-twitch skeletal muscle (Frey et al., 2004). / Oral Biology

Neįprasti didelio intensyvumo (ypač ekscentriniai) raumenų susitraukimai gali sukelti raumenų pažaidą (Yanagisawa et al., 2011; Neme et al., 2013), kuri pasireiškia sumažėjusia raumenų susitraukimo jėga Byrne et al., 2004; Skurvydas et al., 2010) miofibrilių Z linijos morfologiniais pokyčiais (Feasson et al., 2002), baltymų ištekėjimu iš pažeistų raumens skaidulų, raumenų skausmu, patinimu ir padidėjusiu standumu (Malisoux et al., 2006; Chen et al., 2013). Pažaida dažna pradėjus intensyviai treniruotis po santykinai mažo fizinio aktyvumo laikotarpio arba kaitant krūvio parametrus (intensyvumą, apimtį) siekiant išvengti monotonijos ir sukelti didžiausią adaptacinį atsaką (Bompa, 1999; Issurin, 2010). Ankstesniuose tyrimuose taikyti vienodo dydžio krūviai neatitinka sportinių pratybų specifiškumo (Nosaka, Clarkson, 1995; Chen, Hsieh, 2001): pratybose krūvio apimtis ir intensyvumas nuolatos keičiami, taikomos įvairios krūvio didinimo strategijos. Išlieka neaišku, kaip kinta raumenų pažaida ir motorinė funkcija didinant fizinį krūvį taikant skirtingas strategijas. Kėlėme hipotezę, kad: 1) nuosekliai didinamas krūvis sukelia mažesnę raumenų pažaidą, palyginti su staigiai didinamu krūviu, nes motorinė sistema labai jautriai reaguoja į krūvio didinimo greitį; 2) treniruotės ciklo metu periodiškai pasireiškianti didesnė raumenų pažaida dėl superkompensacijos gali sukelti didesnę ilgalaikę griaučių raumenų adaptaciją (masės ir jėgos prieaugį). R. Lynn ir D. L. Morgan (1994) nustatė... [toliau žr. visą tekstą] / Unaccustomed muscle exercise, especially when it involves high-strain eccentric contractions, causes muscle damage (Yanagisawa et al., 2011; Neme et al., 2013). Muscle damage manifests in altered Z-disk morphology (Feasson et al., 2002), prolonged impairment of muscle force (Byrne et al., 2004; Skurvydas et al., 2010), protein leakage from injured muscle fibres, delayed-onset muscle soreness, and increased passive muscle stiffness and swelling (Malisoux et al., 2006; Chen et al., 2013). Muscle damage is frequently induced by sports training, where physical load parameters are being varied on the temporal scale to avoid monotony and maximize the adaptations (Bompa 1999; Issurin, 2010). However, there are limited data on the development of muscle damage and its impact on muscle function when variant exercise training schemes are applied. More needs to be learned about the impact of different strategies of load increase on exercise-induced muscle damage in order to identify progression regimes that can optimize neuromuscular adaptation processes. Therefore, we have followed the dynamics of muscle function during the stretch–shortening exercise with differently increasing load. We increased training stimulus by varying the volume, intensity, and range of motion. According to Nosaka (2008), these components of the eccentric contraction training are the most important for adaptation of the skeletal muscle. We hypothesized that the progressive increase in training load would induce... [to full text]

Protocole d'entente entre l'Université Laval et l'Université du Québec à Chicoutimi / Le but de cette investigation vise à analyser l’impact du génotype de l’ACTN3 sur la conservation et l’évolution de la force musculaire chez les individus atteints de DM1. Cette étude se veut une recherche longitudinale, les patients ayant été évalués sur deux périodes séparées de 9 ans (temps 1 et temps 2). L’analyse de l’impact du génotype de l’ACTN3 comporte deux volets. Le premier volet a pour objectif d’identifier si l’absence de protéine alpha-actinine 3 (génotype 577XX) provoque chez les personnes atteintes de DM1 un niveau de force musculaire global plus faible que chez l’individu des deux autres génotypes, en l’occurrence 577RX et 577RR. Le deuxième volet, quant à lui, a pour objet la comparaison de la perte de force musculaire entre le temps 1 et le temps 2 des trois génotypes. Les patients ont été recrutés dans le registre de la clinique neuromusculaire du Saguenay. Les personnes invitées à participer à cette étude devaient avoir été testées par une analyse génétique confirmant la présence de la maladie (phénotype adulte et tardif) et être âgées de 18 ans ou plus. Un total de 113 participants, soit 42 hommes et 71 femmes, a été en mesure de compléter cette étude longitudinale. Ces derniers ont été évalués à l’aide de 17 tests musculaires. Les résultats du temps 2 ont montré que l’absence de la protéine alpha-actinine 3 chez les hommes atteints de DM1 induisait un niveau de force musculaire global plus faible que chez ceux de génotype 577RX. En effet, le sexe masculin de génotype 577XX a vu sa force décroître plus rapidement au fil des années. Somme toute, si l’encadrement le permet, connaître le profil génotypique associé au gène ACTN3 chez les hommes atteints de DM1 est un élément important à prendre en considération afin de ralentir la progression de la maladie et d’optimiser les stratégies de réadaptation / The purpose of this investigation was to analyze the impact of the genotype of ACTN3 on the conservation and evolution of muscle strength in individuals with DM1. This study was a longitudinal study, the patients having been evaluated on two different occasions with 9 years in between (time 1 and time 2). The analysis of the impact of the ACTN3 genotype had two components. The first part aimed at identifying whether the absence of alpha-actinin 3 protein (genotype 577XX) caused a lower level of overall muscular strength in people with DM1 when compared to the other two genotypes, in this case 577RX and 577RR. The second part aimed at comparing the loss of muscle strength between time 1 and time 2 for the three genotypes. Patients were recruited from the Saguenay Neuromuscular Clinic Registry. Those invited to participate in this study had been previously tested by a genetic analysis confirming the presence of the disease (adult and late phenotype) and be 18 years of age or older. A total of 113 participants, 42 men and 71 women, were able to complete this longitudinal study. These were assessed using 17 muscle tests. At time 2, results showed that the absence of alpha-actinin 3 protein in men with DM1 induced a lower level of overall muscle strength than men with 577RX genotype. Indeed, the male genotype 577XX had a more rapid decrease in strength over the years. In light of these results, knowing the genotype profile associated with the ACTN3 gene in men with DM1 is an important element to consider in order to optimize rehabilitation strategies.

Genetinių veiksnių, lemiančių žmogaus fizinį pajėgumą, analizė Tapimas didelio meistriškumo sportininku yra sudėtingas procesas, kuriam įtakos turi ne tik aplinkos ar psichologiniai veiksniai, tačiau ir genetiškai nulemtos fizinio pajėgumo savybės. Fizinis pajėgumas- sudėtinė kiekybinė paveldima savybė, kurios fenotipus įtakoja daug genų bei aplinkos veiksnių. Daugeliu atvejų morfologinės ir funkcinės sportininko savybės yra siejamos su vieno nukleotido polimorfizmais tam tikrame gene. Skirtingi to paties geno aleliai gali turėti skirtingą poveikį asmens fiziniam vystymuisi ir darbingumui. Maksimalus deguonies suvartojimas (MDS) apibūdina žmogaus fizinį pajėgumą tai yra didžiausią žmogaus kūno gebėjimą transportuoti ir panaudoti deguonį didėjant krūviui treniruočių metu. MDS yra lemiamas daugelio fiziologinių veiksnių vieni svarbiausių iš jų yra širdies ir kraujagyslių, kvepavimo sistemų veikla bei ją įtakojantys genetiniai veiksniai. Šio darbo tikslas- parinkti ir įvertinti AGTR1, AGTR2, AGT, AMPD1, MB, ACTN3 genų žymenų įtaką žmogaus fiziniam pajėgumui remiantis Lietuvos didelio meistriškumo sportininkų ir kontrolinės grupės analize. Buvo pasirinkti AGTR1 c.1166A>C, AGTR2 c.*501A>C, AGT c.620C>T, AMPD1 c.34C>T, MB c.174G>A, ACTN3 c.1747C>T polimorfizmai. Darbe ištirta kontrolinė grupė, sudaryta iš 250 gimininiais ryšiais nesusijusių asmenų bei didelio meistriškumo Lietuvos sportininkų grupės (149 sportininkai) sudarytos pagal sportininkų kvalifikaciją ir jų propaguojamą... [toliau žr. visą tekstą] / The analysis of the genetic factors that influence human physical capacity Although the making of an elite athlete is complex and includes a range of environmental and behavioral factors, genetic predisposition to athleticism is also important. Physical capacity is a typical quantitative complex inheritable, the phenotypes of which are influenced by multiple genes as well as environmental factors. In most of the cases the morphological and functional parameters of an athlete are associated with single nucleotide polymorphisms of a particular gene. Different alleles of the same gene can have distinct effect on a person’s physical development and working capacity. VO2 max (also maximal oxygen consumption, aerobic capacity) is the maximum capacity of an individual's body to transport and utilize oxygen during incremental exercise, which reflects the physical fitness of the individual. There are many physiological factors that combine to determine VO2max among the most important of which are the functions of the cardiovascular, pulmonary systems and the underlying genetic factors. The aim of this study was to choose and asses the influence of the AGT, AGTR1, AGTR2, AMPD and ACTN3 genetic variants on human physical performance by the analysis of Lithuanian elite athletes and the control group. The AGTR1 c.1166A>C, AGTR2 c.*501A>C, AGT c.620C>T, AMPD1 c.34C>T, MB c.174G>A, ACTN3 c.1747C>T polymorphisms were chosen for the research. The study involved the analysis of the elite... [to full text]

Submitted by LEONARDO COELHO RABELLO DE LIMA null (leonardocrlima@gmail.com) on 2017-10-04T00:12:09Z No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) / Approved for entry into archive by Monique Sasaki (sayumi_sasaki@hotmail.com) on 2017-10-04T17:00:41Z (GMT) No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) / Made available in DSpace on 2017-10-04T17:00:41Z (GMT). No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) Previous issue date: 2017-08-07 / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / Introdução: Alguns estudos longitudinais têm mostrado que a força pode influenciar a economia de corrida (EC). Entretanto, outros modelos [p.ex., dano muscular (DM) induzido por corridas em declive (CrED)] mostram que a magnitude e a cinética de recuperação da EC e da força máxima medida em exercícios de cadeia cinética aberta [pico de torque isométrico de extensão do joelho (PTI)] podem ser diferentes. Fatores como o tipo de exercício usado para medir a força e a forma pela qual a força se manifesta (máxima e explosiva), podem explicar, pelo menos em parte, estes dados antagônicos. O objetivo geral deste estudo foi utilizar o modelo de DM induzido pela CrED para analisar a relação entre força máxima e explosiva e a EC. Método: Para isso, foram empregadas três intervenções para modular o DM induzido pela CrED e verificar seus efeitos sobre a força e a EC. Participaram do estudo 85 sujeitos ativos (22,3 ± 2,4 anos, 78 ± 9,4 kg, 176,9 ± 5 cm) que foram aleatoriamente separados em grupo controle (CON), placebo (PLA), suplementação (SUP), isométrico (ISO) e combinado (COMB). CON foi dividido em indivíduos com presença e ausência da α-actinina-3, resultante de polimorfismo do gene ACTN3. Todos os grupos realizaram uma CrED (-15%) por 30 min a 70% VO2max. SUP ingeriu um suplemento rico em compostos flavonoides antes e após a CrED, PLA ingeriu um placebo nos mesmos períodos, ISO realizou 10 contrações isométricas máximas (CIM) dois dias antes da CrED e COMB ingeriu o suplemento e realizou 10 CIM antes da CrED. Foram avaliados marcadores indiretos de DM (força, dor, amplitude de movimento e circunferência da coxa, e atividade sérica de CK) e EC antes e imediatamente, 24, 48, 72 e 96 horas após a CrED. Alterações ao longo do tempo e entre grupos foram analisadas por meio de ANOVA de dois caminhos com post-hoc de Bonferroni. Resultados: Os resultados obtidos demonstraram comprometimento significante da EC após a CrED, assim como alterações significantes em marcadores de DM. Foi identificado um efeito de aceleração da recuperação nas alterações no DM e EC para os grupos SUP e COMB (que apresentaram retorno do VO2 e PTI a níveis basais no dia seguinte e dois dias após a CrED, respectivamente) em relação ao grupo CON. Os grupos que consumiram o suco antioxidante também apresentaram atenuação significante da dor muscular após a CrED. Entretanto, a diferença de cinética de recuperação entre força e EC se manteve mesmo frente aos tratamentos. O grupo ISO apresentou aceleração da recuperação do PTI, mas não da EC, assim como atenuação da dor muscular em relação ao grupo CON. Alterações na altura de saltos foram significantes, sendo que os valores retornaram a níveis basais antes dos valores de PTI. Em relação aos polimorfismos do gene ACTN3, não houve influência do genótipo nas alterações na EC. Entretanto, como esperado, houve maior perda de força para indivíduos RR (que sintetizam a α-actinina-3). Conclusão: Em conjunto, os resultados obtidos sugerem que há, sim, uma relação entre aspectos neuromusculares e a EC. Entretanto, outros fatores, que não a capacidade de produção de força isoladamente, parecem contribuir para essa relação. Ademais, as estratégias de atenuação do DM investigadas no presente estudo parecem ser eficazes na aceleração da recuperação da EC e da força muscular e o polimorfismo do gene ACTN3 parece ser um dos fatores que explicam a susceptibilidade ao DM. / Introduction: Longitudinal studies have been showing that strength production capacity might influence running economy (RE). However, other study models [e.g., downhill running (DhR) induced muscle damage (MD)] show different magnitudes of change and recovery kinetics between strength measured with open kinetic chain exercises [knee extension isometric peak torque (IPT)] and RE might differ. Factors such as the type of exercised used to measures strength and its form of manifestation (maximal or explosive) might, at least in part, explain these differences. The aim of the present study was to analyze the association between strength production capacity and RE using an DhR induced MD model. Methods: To do so, three different prophylactic strategies were adopted to modulate MD induced by DhR and also analyze their effects on strength production capacity and RE. Eighty five active subjects (22.3 ± 2.4 years, 78 ± 9.4 kg, 176.9 ± 5 cm) participated in the study and were randomly allocated to control (CON), placebo (PLA), supplementation (SUP), isometric (ISO), and combined (COMB) groups. Participants in CON were separated based on their ACTN3 polymorphisms. All groups ran downhill (-15%) for 30 min at 70%VO2max. SUP ingested a flavonoid-rich supplement before and following DhR, PLA ingested an isocaloric placebo at the same time points, ISO performed 10 maximal isometric contractinons (MIC) two days prior to the DhR, and COMB ingested the supplement and performed the MIC before DhR. MD symptoms (strength, soreness, knee joint range of motion, thigh circumference, and serum CK activity) and RE were assessed before, immediately after, and 1-4 days following DhR. Changes over time and between groups were analyzed with two-way ANOVA followed by Bonferroni’s post hoc tests. Results: Results showed that RE was significantly compromised following DhR and MD markers were also affected. Faster recovery of RE and MD markers was identified for the SUP and COMB groups (which reached full recovery of VO2 and IPT 1 and 3 days following the DhR, respectively), as compared to CON. Both groups that consumed the antioxidant supplement also presented significant attenuation of muscle soreness following DhR. However, the difference in the recovery kinetics of strength and RE was maintained with this treatment. ISO presented faster recovery of IPT, but not RE, and attenuation and faster recovery of soreness, as compared to CON. Significant changes in jump height were found for all groups, with faster recovery when compared to IPT. No influence of the ACTN3 gene polymorphism was found for changes in RE. However, as expected, RR individuals presented significantly greater strength loss following DhR. Conclusion: When put together, our results suggest that there is, indeed, an association between neuromuscular aspects and RE. However, factors other than strength production per se seem to contribute to this association. Moreover, the prevention/recovery strategies investigated in the present study seem to be effective to promote faster recovery of RE and strength following DhR. Also, ACTN3 gene polymorphism seems to be one of the factors contributing to susceptibility to MD, but not changes in RE. / FAPESP: 2013/23585-4

Submitted by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:45:39Z No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) / Approved for entry into archive by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:46:25Z (GMT) No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) / Made available in DSpace on 2018-08-08T17:46:25Z (GMT). No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) Previous issue date: 2018-05-03 / The search for better sports performance has encouraged studies on the interaction between environmental and genetic factors. In this perspective, while environmental factors stimulate morphofunctional adaptations, genetic polymorphisms modulate the genes responsible for these adaptations. Therefore, the identification of the candidate genes and their respective polymorphisms with potential to influence the phenotypes related to this performance have been the target of the researchers of the area. Among the promising polymorphisms are the I/D of the angiotensin converting enzyme (ACE) gene and the α-actinin-3 (ACTN3) gene R577X. In the field of sports genetics, swimming has been studied, but research on the younger athletes is rare. The objective of this study was to analyze the association between ACE and ACTN3 polymorphisms in sports performance indicators in 120 brazilian swimmers (75 Boys and 45 Girls), aged 15 to 17 years (16.76 ± 0.6 years ), affiliated to the Brazilian Confederation of Aquatic Sports. 102 non-athletes of the same age group (16.51 ± 0.95 years) residing in the Federal District were part of the control group (56 Boys and 46 Girls). These were subdivided by official swimming tests (short: ≤200m vs long: ≥400m), related to the phenotypes of sports performance (strength vs. power) and by the competitive level (elite vs. sub-elite). The elite status (international experiences) and the technical index (TI) were adopted as indicators of performance. It was also evaluated the total genothype score (TGS) associated to the strength / power phenotypes. The technique of scraping buccal mucosa epithelial cells with the aid of a specific swab was used to collect the samples. In the athletes was collected during the XXIV Brazilian Junior Swimming Championship and among the students, in the intervals of the Physical Education classes. The genotyping of the polymorphisms was performed through the polymerase chain reaction technique obeying standardized and scientifically validated protocols. All the volunteers signed the agreement with prior consent of those responsible. Chi-square and Mann-Whitney tests were used when the variables were not normally distributed. Pearson's correlation and t-test for independent samples were used for the parametric data. The groups (athletes and non-athletes) demonstrated Hardy-Weinberg equilibrium for the genotypic and allelic distribution of polymorphisms. Sub-elite athletes (≤200m and ≥ 400m) presented allelic and genotype frequencies in both polymorphisms very close to those observed for the control group. The elite group of athletes was formed by specialists in short competitions (≤200m). Significant primacy of the DD genotype of ACE was observed for elite athletes. The D allele and DD genotype were also predominant among athletes of the same phenotypic (strength/power) group identified in the upper quartile (Q3) of TI, with significant differences especially in favor of elite athletes. Analysis of the ACTN3 polymorphism revealed that the R allele was predominant in all groups, except for the elite group, which had a frequency of the heterozygote RX genotype significantly higher. The best TI’s were verified among the athletes (≤200m) genotyped for RX and RR, with supremacy for the homozygote among elite athletes. In the joint evaluation of the two polymorphisms, the elite group presented significant genotypic supremacy of DD + RX addition compared to the other groups that presented higher occurrence of DD + RR homozygotes. The TGS analysis showed that athletes with better genotype profiles (score ≥75) also had the best TI’s. The results of the study suggest that the elite status and the best TI’s verified among juvenile athletes were influenced positively by the genotype associations typically expected. / A busca pelo melhor desempenho esportivo tem incentivado estudos sobre a interação entre os fatores ambientais e genéticos. Nesta perspectiva, enquanto os fatores ambientais estimulam as adaptações morfofuncionais os polimorfismos genéticos modulam os genes responsáveis por estas adaptações. Por isso, a identificação dos genes candidatos e seus respectivos polimorfismos com potencial de influenciar os fenótipos relacionados a este desempenho têm sido alvo dos pesquisadores da área. Dentre os polimorfismos promissores destacam-se o I/D do gene da enzima conversora da angiotensina (ECA) e o R577X do gene da α-actinina-3 (ACTN3). Na área da genética do esporte a natação tem sido estudada, mas são raras as pesquisas dedicadas aos atletas mais jovens, notadamente na população brasileira. O objetivo do estudo foi analisar a associação entre os polimorfismos da ECA e da ACTN3 aos indicadores de desempenho esportivo em 120 atletas da natação brasileira (75 Rapazes e 45 Moças), na faixa etária dos 15 aos 17 anos (16,76 ± 0,6 anos), filiados à Confederação Brasileira de Desportos Aquáticos (6,46 ± 2,13 anos). 102 jovens escolares (56 Rapazes e 46 Moças) não-atletas da mesma faixa etária (16,51 ± 0,95 anos) residentes no Distrito Federal fizeram parte do grupo controle. Estes foram subdivididos pelas provas oficiais da natação (curtas: ≤200m vs longas: ≥400m), relacionadas tipicamente aos fenótipos opostos do desempenho atlético (respectivamente: força/potência vs resistência) e pelo nível competitivo (elite vs sub-elite). O status de elite (experiências internacionais) e o índice técnico (IT) foram adotados como indicadores de desempenho. Foi avaliado também o score total dos genótipos (TGS) associados aos fenótipos da força/potência. O material genético dos atletas foi coletado durante o XXIV Campeonato Brasileiro Juvenil de Natação e entre os escolares, nos intervalos das aulas de Educação Física. A técnica de raspagem das células epiteliais da mucosa bucal com o auxílio de swab específico foi utilizada para a coleta das amostras. A genotipagem dos polimorfismos foi realizada através da técnica de reação em cadeia da polimerase obedecendo protocolos padronizados e cientificamente validados. Todos os voluntários assinaram o termo de assentimento com prévia anuência dos responsáveis. Os testes do Qui-Quadrado e Mann-Whitney foram utilizados quando as variáveis não apresentavam distribuição normal. A correlação de Pearson e o teste t para amostras independentes foram utilizados para os dados paramétricos. Os grupos (atletas e não-atletas) demonstraram equilíbrio Hardy-Weinberg para a distribuição genotípica e alélica dos polimorfismos. Os atletas sub-elite (≤200m e ≥400m) apresentaram frequências alélicas e genotípicas em ambos os polimorfismos muito próximas às verificadas para o grupo controle. O grupo de atletas de elite foi formado por especialistas em provas curtas (≤200m). Observou-se supremacia significativa do genótipo DD da ECA para os atletas de elite. O alelo D e o genótipo DD foram predominantes também entre os atletas do mesmo grupo fenotípico (força/potência) identificados no quartil superior (Q3) do IT, com diferenças significativas especialmente em prol dos atletas de elite. A análise do polimorfismo da ACTN3 revelou que o alelo R foi predominante em todos os grupos, exceto para o grupo de elite, os quais apresentaram frequência do genótipo heterozigoto RX significativamente superior. Os melhores IT foram verificados entre os atletas (≤200m) genotipados para RX e RR, com supremacia para o homozigoto entre os atletas de elite. Na avaliação conjunta dos dois polimorfismos o grupo de elite apresentou significativa supremacia genotípica da adição DD+RX frente aos demais grupos que apresentaram maior ocorrência dos homozigotos DD+RR. A análise do TGS demonstrou que os atletas com melhores perfis genofenotípicos (score ≥75) apresentaram também os melhores IT. Os resultados do estudo sugerem que o status de elite e os melhores IT verificados entre atletas juvenis sofreram influência positiva das associações genofenotípicas tipicamente esperada.

Greitumas – vienas iš svarbiausių judamųjų gebėjimų. Jis įvairiose sporto šakose pasireiškia skirtingomis formomis. Greitumo pratybos, tai tokios pratybos, kurios nemažina maksimalaus raumens susitraukimo ir atsipalaidavimo greičio, o jį padidina. Yra žinoma, kad jėgos pratybos yra kenksmingos greitumui. Mūsų nuomone, didžiausia problema sporto moksle - kaip padidinti jėgą nesumažinant raumens susitraukimo ir atsipalaidavimo greičio. Taip pat labai aktualu sužinoti, kaip skirtingų genų variantų žmonės geba didinti greitumą ir jo pasireiškimo formas. Šiuo metu pasirodė daug straipsnių apie ACTN3 R577X polimorfizmą. Yra žinoma, kad α-aktinino-3 baltymo nėra pas 16 % pasaulio žmonių. Įdomu tai, kad mutavusio (X) alelio ir ypač pilno α-aktinino-3 (alelis XX) deficito dažnis yra ženkliai mažesnis tarp sprinto ir galingumo atletus. Todėl mes savo tyrime analizavome greitumo pratybų įtaką didesnio jėgos indėlio reikalaujantiems pratimams ir gautus rezultatus lyginome tarp skirtingų RR ir XX genotipų. Tyrimo tikslas – ištirti maksimalaus greitumo padidėjimo įtaką didesnio jėgos indėlio reikalaujantiems judamiesiems gebėjimams priklausomai nuo RR (gaminasi α-aktininas-3) ir XX (nesigamina α-aktininas-3) genotipo. Tyrimo objektas – greitumo pokytis ir to pokyčio įtaka didesnės jėgos reikalaujantiems judamiesiems gebėjimams RR ir XX genotipo grupėse. Tyrimo uždaviniai: 1. Nustatyti ir įvertinti, kaip po 10 maksimalaus greitumo lavinimo pratybų kito RR ir XX grupių greitumo judamasis... [toliau žr. visą tekstą] / Running speed is one of the most important physical properties. It has various forms. Speed training does not decrease muscle contraction and relaxation speed. It is well known, that strength training decrease running speed results. That’s why we think that maybe the most important problem in sport science is how to increase strength without maximum muscle contraction and relaxation speed decrease. Also it is important to know how people with different genotypes can increase running speed. There are only few articles about ACTN3 R577X polymorphism. A common nonsense mutation (R577X) in the ACTN3, resulting in a premature stop codon and lack of detectable protein in homozygous individuals for the ACTN3 null allele (XX genotype), has been demonstrated in the general human population with 16 % prevalence in Caucasians. Sprint athletes have lower 577XX genotype frequency endurance athletes. That’s why we analyze running speed workouts influence to more strength required physical properties between RR and XX groups. The aim of the study - to investigate running speed increment influence to more strength required physical properties and compare results between RR (with α-actinin-3) and XX (without α-actinin-3) groups. The object of the study - running speed change and this change influence to more strength required physical properties between RR (with α-actinin-3) and XX (without α-actinin-3) groups. Study tasks: 1. To investigate how after maximum speed workouts vary running speed... [to full text]

Submitted by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:05:15Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:56:54Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:57:01Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) / Made available in DSpace on 2018-05-24T13:57:01Z (GMT). No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) Previous issue date: 2017-08-23 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / OBJETIVO: Estudar as associações entre os polimorfismos genéticos ECA I/D, ACTN3 R577X e PON1 C(-107)T com diabetes e hipertensão em pacientes atendidos pelo Sistema Único de Saúde. MÉTODOS: Foram coletados dados bioquímicos dos prontuários dos pacientes crônicos de três Unidades Básicas de Saúde da Família localizadas na cidade de Rio Grande. Foram aplicados questionários de consumo alimentar, nível de atividade física e socioeconômico. Foi realizada a avaliação nutricional dos pacientes e, em seguida, a coleta de saliva para a extração do DNA genômico para análise dos polimorfismos genéticos. Os polimorfismos foram analisados por PCR simples, multiplex e por polimorfismo de tamanho de fragmento de restrição. RESULTADOS: O grupo caso obteve maiores valores de peso, IMC, circunferência da cintura, percentual de gordura, pressão arterial, colesterol total, triglicerídeos e glicemia em comparação ao grupo controle. Foram encontradas associações do genótipo XX do polimorfismo R577X da ACTN3 com valores mais elevados de glicemia e triglicerídeos. O genótipo TT do polimorfismo C(-107)T da PON1 também obteve níveis maiores de triglicerídeos comparado aos outros 2 genótipos. CONCLUSÃO: O genótipo XX da ACTN3 foi fortemente relacionado com níveis baixos de HDL e altos valores de triglicerídeos, colesterol total e glicemia. Ainda encontramos altos valores de triglicerídeos e LDL no genótipo TT e menores níveis de colesterol total ligados ao genótipo CC da PON1. / OBJECTIVE: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 C-(107)T with chronic diseases (diabetes and hypertension) in patients attended by Sistema Único de Saúde (SUS). METHODS: Biochemical data were collected from the charts in the Basic Health Units of the Family located in the same region of the city of Rio Grande. Charts about food consumption, physical activity level and socioeconomic were applied. Nutritional data were evaluated, genomic DNA was extracted from collected saliva samples and used for analysis of genetic polymorphism. RESULTS: The case group had higher values of weight, BMI, waist circumference, body fat percentage, blood pressure, cholesterol, triglycerides and blood glucose in comparison with control group. Associations were found of XX genotype of the polymorphism R577X ACTN3 with higher values of blood glucose, and triglycerides levels. The TT genotype of the C(-107)T PON1 also had higher levels of triglycerides compared to other 2 genotypes. CONCLUSION: The genotype XX of ACTN3 was strong related with low HDL levels and high triglycerides, total cholesterol and glucose levels. Still, we realized high triglycerides and LDL leves in TT genotype of PON1 and lower leves of total cholesterol linked to CC genotype of PON1.