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Study Objectives: The purpose of the study was to investigate the relationship of polymorphism with explosive forces in ACTN3, ACE, and UCP3 genes in soccer players. Methods: A total of 19 male soccer players and 9 sedentary voluntarily participated. Countermovement jump, squat jump, and standing long jump tests were applied to the subjects. On the same day, the subjects performed the jump tests twice again and the best score was recorded. Blood was drawn from subjects for Genomic DNA isolation. PCR products of ACTN3 and UCP3 genes Medical Genetics department genotypic differences between the groups were determined by analyzing with an automatic DNA sequencing system. Since taken non-parametric assumptions, it was analyzed by the Spearman test. Results: In subject group, a statistically significant relationship was found between all three jump performances in the subjects with ACTN3 RR and ACE ID genotype (p CMJ=0.04; SJ=0.04; SLJ=0.05) (p0.05). A statistically significant relationship was found between all three jump performances in subjects with ACE ID and UCP3 -55C/C genotype (p CMJ=0.00; SJ=0.00; SLJ=0.00) (p

The aim of the present study was to evaluate the relationship between explosive power and ACTN3 R577X polymorphism among elite women volleyball players. Voluntary participants (20.88 +/- 3.20 years, 172.72 +/- 9.34 cm, 61.79 +/- 10.08 kg, 20.70 +/- 2.21 kg/m(2)) including elite Turkish women volleyball players (n=72) and nonathletic university students (n=99) were included in the study. Venous blood samples were collected before the jump tests. After anthropometric measurements were obtained, subjects performed static vertical jump and counter movement jump to evalute explosive power performances. ACTN3 R577X polymorphism analyses were assessed on the blood samples in order to evaluate the genotypic frequencies of the ACTN3 R577X genotypes differed between groups. There was no statistically significant difference on ACTN3 R577X polymorphism groups' genotype distribution in the study groups. the genotype distribution was similar for both volleyball players and the nonathletic university students (p= 0.77). Moreover, there was no statistically significant difference for vertical and counter jump results on ACTN3 R577X polymorphism RR, RX and XX genotypes for volleyball players and the nonathletic university students. As a conclusion, the findings of the study reveal that ACTN3 R577X polymorphism has a key role in explaining individual phenotypic differences in muscle strength, but not affecting volleyball performance singly at least for elite Turkish women volleyball players. in addition, it is believed that this polymorphism are not strong enough to be predictive or/and utilized seperately as a talent identification factor in volleyball., Manisa Celal Bayar University Scientific Research Projects Unit, This study was supported by Manisa Celal Bayar University Scientific Research Projects Unit as a doctoral thesis project.

Study Objectives: The purpose of the study was to investigate the relationship of polymorphism with explosive forces in ACTN3, ACE, and UCP3 genes in soccer players. Methods: A total of 19 male soccer players and 9 sedentary voluntarily participated. Countermovement jump, squat jump, and standing long jump tests were applied to the subjects. On the same day, the subjects performed the jump tests twice again and the best score was recorded. Blood was drawn from subjects for Genomic DNA isolation. PCR products of ACTN3 and UCP3 genes Medical Genetics department genotypic differences between the groups were determined by analyzing with an automatic DNA sequencing system. Since taken non-parametric assumptions, it was analyzed by the Spearman test. Results: In subject group, a statistically significant relationship was found between all three jump performances in the subjects with ACTN3 RR and ACE ID genotype (p CMJ=0.04; SJ=0.04; SLJ=0.05) (p0.05). A statistically significant relationship was found between all three jump performances in subjects with ACE ID and UCP3 -55C/C genotype (p CMJ=0.00; SJ=0.00; SLJ=0.00) (p

BackgroundDuring the process of acclimatization, when our organism needs to adjust several metabolic processes in the attempt of establishing a better oxygenation, it is normal that individuals present some symptoms that can lead to the disease of the mountain. However, not everyone presents such symptoms and individuals native of high altitudes regions present genetic differences compared to natives of low altitudes which can generate a better acute adaptation. One of these differences is the higher proportion of type I muscle fibers, which may originate from the R577X polymorphism of theACTN3gene. The aim of this study was to compare the response of individuals with differentACTN3genotypes at simulated 4500 m altitude on the presence of Acute Mountain Sickness (AMS) symptoms. Twenty-three volunteers (RR = 7, RX = 8, XX = 8) spent 4 hours exposed to a simulated altitude of 4500 m inside a normobaric hypoxia chamber. Lactate and glucose concentrations, SpO2, heart rate and the symptoms of AMS were analyzed immediately before entering the chamber and at each hour of exposure. Statistical analysis was performed using IBM SPSS Statistics 21 software.ResultsOur results point to an association between AMS symptoms and the presence of R allele from R577X polymorphism.ConclusionWe conclude that individuals with at least one R allele of the R577X polymorphism seems to be more susceptible to the effects of hypoxia during the acclimatization process and may develop AMS symptoms.

Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e., complete dystrophin deficiency, but not so much with regards to its phenotype. For instance, muscle weakness progresses to the loss of independent ambulation at a variable age, starting from before 10 years, to even after 16 years (with glucocorticoid treatment). Identifying the bases of such variability is relevant for patient counseling, prognosis, stratification in trials, and identification of therapeutic targets. To date, variants in five loci have been associated with variability in human DMD sub-phenotypes: SPP1, LTBP4, CD40, ACTN3, and THBS1. Four of these genes (SPP1, LTBP4, CD40, and THBS1) are implicated in several interconnected molecular pathways regulating inflammatory response to muscle damage, regeneration, and fibrosis; while ACTN3 is known as “the gene for speed„, as it contains a common truncating polymorphism (18% of the general population), which reduces muscle power and sprint performance. Studies leading to the identification of these modifiers were mostly based on a “candidate gene„ approach, hence the identification of modifiers in “usual suspect„ pathways, which are already known to modify muscle in disease or health. Unbiased approaches that are based on genome mapping have so far been applied only initially, but they will probably represent the focus of future developments in this field, and will hopefully identify novel, “unsuspected„ therapeutic targets. In this article, we summarize the state of the art of modifier loci of human dystrophin deficiency, and attempt to assess their relevance and implications on both clinical management and translational research .

The aim of this study was to investigate the prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene in general population of six Balkan countries. This SNP is currently thought to give genetic predisposition for advantageous sport performance, with its R allele positively correlating with better performance in strength/power sports, and X allele being present in higher frequency in elite athletes in endurance disciplines. A total of 483 individuals (281 males and 202 females) from seven populations from six countries was tested. Samples were collected by buccal swabbing method, DNA was isolated according to salting-out protocol and genotyping was performed using PCR and RFLP analysis. Obtained results suggest that RR and RX genotypes (43.7% and 44.1%, respectively) are overrepresented when compared to XX genotype (12.2%). The XX genotype in the study samples is present in lower frequency when compared to the global (16-18%) and European (18%) average. This study reports the first population data on genotype prevalence in sports-related genes for this part of Europe and is the beginning of research interests that intend to investigate genetic predispositions of elite athletes from this region competing internationally in different disciplines.

In this study, we aimed to investigate the influence of ACTN3 R577X gene polymorphism on muscle damage responses in athletes competing in an ultra-endurance race. Twenty moderate to well-trained ultra-runners who had entered in an official 37.1 km adventure race (22.1 km mountain biking, 10.9 km trek¬king, 4.1 km water trekking, 30 m rope course, and orienteering) volunteered for the study. Blood samples were collected for genotyping and analysis of muscle protein levels before and after the race. Percentage changes (pre- to post-race) of serum myoglobin [XX = 5,377% vs. RX/RR = 1,666%; P = 0.005, effect size (ES) = 1.73], creatine kinase (XX = 836.5% vs. RX/RR = 455%; P = 0.04, ES = 1.29), lactate dehydrogenase (XX = 82% vs. RX/RR = 65%; P = 0.002, ES = 1.61), and aspartate aminotransferase (XX = 148% vs. RX/RR = 75%; P = 0.02, ES = 1.77) were significantly greater for XX than RX/RR genotypes. ES analysis confirmed a large magnitude of muscle damage in XX genotype ultra-runners. Therefore, athletes with the ACTN3 577XX genotype experienced more muscle damage after an adventure race. This suggests that ultra-runners with alpha-actinin-3 deficiency may be more susceptible to rhabdomyolysis and associated health complications during ultra-endurance com¬petitions.

Hensikt: Tidligere studier har vis at eldre (over 60 år) responderer på styrketrening. Det er imidlertid ikke konsensus vedrørende grad av adaptasjon på maksimal styrketrening i forskjellige aldere og gen-varianter. Det er derfor behov for mer kunnskap om adaptasjon til maksimal styrketrening ved ulike aldere og gen-varianter. Denne studien undersøkte relativ styrkeadaptasjon etter maksimal styrketrening i beinpress hos forskjellige aldersgrupper, samt kandidatgenet ACTN3 R577X sin påvirkning på denne adaptasjonen. Metode: 49 personer (22 menn og 27 kvinner) med alder fra 20 til 78 år ble delt inn i 10 års aldersgrupper. Disse gjennomførte en intervensjon på 8 uker med maksimal styrketrening i beinpress (4⋅4RM) tre ganger i uken. Resultat: Det var lik relativ fremgang mellom aldersgruppene, gjennomsnittlig 24%. En negativ sammenheng mellom muskelstyrke baseline og alder ble avdekket (p

WOS: 000452861300002, PubMed ID: 30899134, The aim of this study was to determine the distribution of ACTN3 R577X gene polymorphism in soccer players and sedentary individuals, and to investigate the relationship of this distribution with performance tests. A total of 100 soccer players and 101 sedentary individuals were enrolled in the study. Standing long jump and countermovement jump (with arm swing, without arm swing and repeated) scores were recorded, using a jump meter. Maximum VO2 levels were measured using a treadmill-connected cardiopulmonary exercise device, Masterscreen CPX. ACTN3 R577X polymorphism was evaluated by real-time PCR. ACTN3 R577X genotype distribution was found to be similar in soccer players and controls (p>0.05). The only statistically significant finding was a shorter countermovement jump with arm swing scores in the RR-genotyped soccer players, compared with their RX genotyped counterparts (p

Background: Actinins are major cytoskeletal proteins that mediate sarcomere function, and they also have important non-muscle functions such as regulating cytokinesis, cell adhesion and migration. There are four isoforms of actinins in mammals (ACTN1-4). Recently, the relationship between actinins and cancer has been discovered in many types of malignancy, yet their prognostic significance in acute myeloid leukemia (AML) remains unclear. Methods: We collected data of 155 de novo AML patients from The Cancer Genome Atlas (TCGA) database; 85 patients received chemotherapy only and 70 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). We divided each treatment groups into sub-groups based on the median expression levels of ACTN1-4. Results: Survival analysis showed that in the chemotherapy-only group, high ACTN1 and ACTN3 expression were associated with shorter event-free survival (EFS) and overall survival (OS) (p

研究成果の概要 (和文) : 本研究では、これまでの研究に遺伝子多型という新たな視点を加え、ヒト肘関節屈筋群における伸張性収縮運動を実施した際の筋損傷と遺伝的要因との関連性を検討することを目的とした。被験者はトレーニング習慣のない健常男性とし、肘関節屈筋群に負荷した。その結果、伸張性運動前のACTN3R577X遺伝的多型は等尺性筋力発揮及び関節柔軟性と関連することを見いだすことができた。, 研究成果の概要 (英文) : The purpose of present study was to examine the association between genotype and functional characteristics of elbow flexors before and after eccentric contractions (ECCs). Untrained men were recruited. Measurements of MVC torque, ROM, and muscle soreness were taken before, immediately after, 1, 2, 3, and 5 days after ECCs. Genotyping results were analyzed for identifying ACTN3 R577X polymorphism (rs1815739) using TaqMan approach. MVC at baseline was greater in RR homozygotes than in X-allele carriers (combined XX and RX; p < 0.05). ROM in RR homozygotes at baseline was lower than that of X-allele carriers. Although a significant decrease in ROM was observed in X-allele carriers until 3 days after ECCs, a significant ROM reduction in RR homozygotes was observed only immediately after ECCs. Our data indicated that ACTN3 RR genotype has higher MVC and lower flexibility than X-allele carriers at baseline, but effect of ACTN3 R577X genotype on these two parameters is limited after ECCs.

In elite sporting codes, the identification and promotion of future athletes into specialised talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments. Despite the availability of a plethora of assessments, the dependence on subjective forms of identification remain commonplace in most sporting codes. More recently, genetic markers, including several single nucleotide polymorphisms (SNPs), have been correlated with enhanced aerobic capacity, strength, and an overall increase in athletic ability. In this review, we discuss the effects of a number of candidate genes on athletic performance, across single-skilled and multifaceted sporting codes, and propose additional markers for the identification of motor skill acquisition and learning. While displaying some inconsistencies, both the ACE and ACTN3 polymorphisms appear to be more prevalent in strength and endurance sporting teams, and have been found to correlate to physical assessments. More recently, a number of polymorphisms reportedly correlating to athlete performance have gained attention, however inconsistent research design and varying sports make it difficult to ascertain the relevance to the wider sporting population. In elucidating the role of genetic markers in athleticism, existing talent identification protocols may significantly improve—and ultimately enable—targeted resourcing in junior talent pathways.

Submitted by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:45:39Z No. of bitstreams: 1 SeverinoLe??odeAlbuquerqueNetoTese2018.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 SeverinoLe??odeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) Made available in DSpace on 2018-08-08T17:46:25Z (GMT). No. of bitstreams: 1 SeverinoLe??odeAlbuquerqueNetoTese2018.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 ??-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 intera????o entre os fatores ambientais e gen??ticos. Nesta perspectiva, enquanto os fatores ambientais estimulam as adapta????es morfofuncionais os polimorfismos gen??ticos modulam os genes respons??veis por estas adapta????es. Por isso, a identifica????o dos genes candidatos e seus respectivos polimorfismos com potencial de influenciar os fen??tipos relacionados a este desempenho t??m sido alvo dos pesquisadores da ??rea. Dentre os polimorfismos promissores destacam-se o I/D do gene da enzima conversora da angiotensina (ECA) e o R577X do gene da ??-actinina-3 (ACTN3). Na ??rea da gen??tica do esporte a nata????o tem sido estudada, mas s??o raras as pesquisas dedicadas aos atletas mais jovens, notadamente na popula????o brasileira. O objetivo do estudo foi analisar a associa????o entre os polimorfismos da ECA e da ACTN3 aos indicadores de desempenho esportivo em 120 atletas da nata????o brasileira (75 Rapazes e 45 Mo??as), na faixa et??ria dos 15 aos 17 anos (16,76 ?? 0,6 anos), filiados ?? Confedera????o Brasileira de Desportos Aqu??ticos (6,46 ?? 2,13 anos). 102 jovens escolares (56 Rapazes e 46 Mo??as) n??o-atletas da mesma faixa et??ria (16,51 ?? 0,95 anos) residentes no Distrito Federal fizeram parte do grupo controle. Estes foram subdivididos pelas provas oficiais da nata????o (curtas: ???200m vs longas: ???400m), relacionadas tipicamente aos fen??tipos opostos do desempenho atl??tico (respectivamente: for??a/pot??ncia vs resist??ncia) e pelo n??vel competitivo (elite vs sub-elite). O status de elite (experi??ncias internacionais) e o ??ndice t??cnico (IT) foram adotados como indicadores de desempenho. Foi avaliado tamb??m o score total dos gen??tipos (TGS) associados aos fen??tipos da for??a/pot??ncia. O material gen??tico dos atletas foi coletado durante o XXIV Campeonato Brasileiro Juvenil de Nata????o e entre os escolares, nos intervalos das aulas de Educa????o F??sica. A t??cnica de raspagem das c??lulas epiteliais da mucosa bucal com o aux??lio de swab espec??fico foi utilizada para a coleta das amostras. A genotipagem dos polimorfismos foi realizada atrav??s da t??cnica de rea????o em cadeia da polimerase obedecendo protocolos padronizados e cientificamente validados. Todos os volunt??rios assinaram o termo de assentimento com pr??via anu??ncia dos respons??veis. Os testes do Qui-Quadrado e Mann-Whitney foram utilizados quando as vari??veis n??o apresentavam distribui????o normal. A correla????o de Pearson e o teste t para amostras independentes foram utilizados para os dados param??tricos. Os grupos (atletas e n??o-atletas) demonstraram equil??brio Hardy-Weinberg para a distribui????o genot??pica e al??lica dos polimorfismos. Os atletas sub-elite (???200m e ???400m) apresentaram frequ??ncias al??licas e genot??picas em ambos os polimorfismos muito pr??ximas ??s verificadas para o grupo controle. O grupo de atletas de elite foi formado por especialistas em provas curtas (???200m). Observou-se supremacia significativa do gen??tipo DD da ECA para os atletas de elite. O alelo D e o gen??tipo DD foram predominantes tamb??m entre os atletas do mesmo grupo fenot??pico (for??a/pot??ncia) identificados no quartil superior (Q3) do IT, com diferen??as significativas especialmente em prol dos atletas de elite. A an??lise do polimorfismo da ACTN3 revelou que o alelo R foi predominante em todos os grupos, exceto para o grupo de elite, os quais apresentaram frequ??ncia do gen??tipo 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 avalia????o conjunta dos dois polimorfismos o grupo de elite apresentou significativa supremacia genot??pica da adi????o DD+RX frente aos demais grupos que apresentaram maior ocorr??ncia dos homozigotos DD+RR. A an??lise do TGS demonstrou que os atletas com melhores perfis genofenot??picos (score ???75) apresentaram tamb??m os melhores IT. Os resultados do estudo sugerem que o status de elite e os melhores IT verificados entre atletas juvenis sofreram influ??ncia positiva das associa????es genofenot??picas tipicamente esperada.

Introdução: A análise dos diversos fatores genéticos, principalmente os relacionados aos polimorfismos de DNA, têm sido investigados na busca de uma melhor compreensão dos mecanismos relacionados à hipertrofia e força muscular. Dentre os diversos genes polimórficos relacionados ao tema estão a miostatina e o gene α-actinina-3 (ACTN3).Objetivo: Avaliar a modulação do gene da miostatina na hipertrofia muscular esquelética e do gene ACTN3 na regulação dos níveis de força.Métodos: Estudo de revisão integrativa no qual foram pesquisados artigos que tivessem avaliado a modulação genética da hipertrofia muscular esquelética e da força. Fizeram parte desta investigação estudos originais e de revisão, publicados em português, inglês e espanhol, entre os anos de 1995 a 2017, selecionados nas bases de dados SciELO e Pubmed, utilizando-se três conjuntos de intersecção de termos de busca bibliográfica em português: a) “miostatina” e “hipertrofia muscular esquelética” e/ou “genética”; e b) “exercício físico” ou “treinamento aeróbico” ou “treinamento de força” ou “rendimento esportivo” e “ACTN3” e/ou “força muscular” e/ou genética. Em inglês: a) “myostatin”and “skeletal muscle hypertrophy” and/or genetics; and b) “physical exercise” and “aerobic training”, strength training, sports performance) and “ACTN3” “muscular strength” and/or “genetic”. E em espanhol: “miostatina” y “hipertrofia muscular esquelética” y/o genética; y b) “ejercicio físico” o “entrenamiento aeróbico” o “entrenamiento de fuerza” o “rendimiento desportivo) y “ACTN3” o “fuerza muscular” y/o genética”.Resultados e Discussão: Os estudos apontaram: a) associação do genótipo RR577 do ACTN3 com a força e o tamanho da área de secção transversa do músculo esquelético; b) correlação do alelo R com fibras glicolíticas de contração rápida e níveis médios de testosterona significativamente mais elevados; e c) o polimorfismo do ACTN3 está relacionado ao treinamento de alta intensidade. As evidências apontaram que a miostatina atua na inibição da hipertrofia muscular esquelética, e também pode ser modulada geneticamente pelo exercício físico.Conclusão: A literatura aponta evidências de que o polimorfismo do ACNT3 está relacionado com o treinamento de alta intensidade, ressaltando que, segundo os resultados dos estudos, houve correlação do alelo R, com fibras glicolíticas de contração rápida e com os níveis de testosterona significativamente mais elevados. Sendo assim, o gene ACTN3 está correlacionado com o desenvolvimento da força muscular e a folistatina, proteína antagônica da miostatina, está associada ao aumento da massa muscular. Genetic Modulation of Myostatin and Actn3 Gene in Muscular Hypertrophy and Force: an Integrative ReviewIntroduction: The analysis of several genetic factors, especially those related to DNA polymorphisms, has been investigated in the search for a better understanding of the mechanisms related to hypertrophy and muscle strength. Among the several polymorphic genes related to the subject are myostatin and ACTN3.Objective: To evaluate the modulation of the myostatin gene in skeletal muscle hypertrophy and the ACTN3 gene in the regulation of strength levels.Methods: An integrative review study in which articles were searched that assessed the genetic modulation of skeletal muscle hypertrophy and strength. Original and review studies, published in Portuguese, English and Spanish, between 1995 and 2017, selected in the SciELO and PubMed databases, were carried out using three sets of intersection of bibliographic search: In English: a) “myostatin” and “skeletal muscle hypertrophy” and/or genetics; and b) “physical exercise” and “aerobic training”, strength training, sports performance) and “ACTN3” “muscular strength” and/or “genetic”. In Portuguese: a) “miostatina” e “hipertrofia muscular esquelética” e/ou “genética”; e b) “exercício físico” ou “treinamento aeróbico” ou “treinamento de força” ou “rendimento esportivo” e “ACTN3” e/ou “força muscular” e/ou genética. And in Spanish: “miostatina” y “hipertrofia muscular esquelética” y/o genética; y b) “ejercicio físico” o “entrenamiento aeróbico” o “entrenamiento de fuerza” o “rendimiento desportivo) y “ACTN3” o “fuerza muscular” y/o genética”.Results and Discussion: Studies indicated: a) association of RR577 genotype of ACTN3 with the strength and size of the cross-sectional area of skeletal muscle; b) correlation of the R allele with fast contracting glycolytic fibers and significantly higher mean levels of testosterone; and, c) ACTN3 polymorphism is related to high intensity training. Evidence has pointed out that myostatin acts on inhibition of skeletal muscle hypertrophy, as well as being genetically modulated by physical exercise.Conclusion: The literature showed evidence that the ACNT3 polymorphism is related to the high intensity training, emphasizing that according to the results of the studies, there was a correlation of the R allele with fast contracting glycolytic fibers and with testosterone levels higher. Thus, the ACTN3 gene is correlated with the development of muscle strength and follistatin, an antagonistic protein of myostatin, is associated with increased muscle mass. Keywords: hypertrophy, muscle strength, myostatin, polymorphism.

The aim of this study was to determine the distribution of ACTN3 R577X gene polymorphism in soccer players and sedentary individuals, and to investigate the relationship of this distribution with performance tests. A total of 100 soccer players and 101 sedentary individuals were enrolled in the study. Standing long jump and countermovement jump (with arm swing, without arm swing and repeated) scores were recorded, using a jump meter. Maximum VO2 levels were measured using a treadmill-connected cardiopulmonary exercise device, Masterscreen CPX. ACTN3 R577X polymorphism was evaluated by real-time PCR. ACTN3 R577X genotype distribution was found to be similar in soccer players and controls (p>0.05). The only statistically significant finding was a shorter countermovement jump with arm swing scores in the RR-genotyped soccer players, compared with their RX genotyped counterparts (p

[Purpose] Association of ACTN3 polymorphism with bone mineral density and the physical fitness of elderly women is still unclear. Therefore, this study investigated the association between ACTN3 genotype and bone mineral density, and the physical fitness of elderly women. [Subjects and Methods] Sixty-eight elderly women (67.38 ± 3.68 years) were recruited at a Seongbuk-Gu (Seoul, Korea) Medical Service Public Health Center. Measurements of physical fitness included muscle strength, muscle endurance, flexibility, agility, balance and VO2max. Bone mineral density (BMD), upper limb muscle mass, lower limb muscle mass, percent body fat and body fat mass for the entire body were measured by dual-energy X-ray absorptiometry and an analyzer. Genotyping for the ACTN3 R577X (rs1815739) polymorphism was performed using the TaqMan approach. [Results] ACTN3 gene distribution of subjects were in the Hardy-Weinberg equilibrium (p=0.694). The relative bone mineral density trunk, pelvis and spine differed significantly among the ACTN3 genotypes. There were no significant differences among bone mineral densities of the head, arms, legs, ribs and total, but the RR genotype tended to be higher than other genotypes. Physical fitness was not significantly different among the ACTN3 genotypes. [Conclusion] These results suggest that ACTN3 gene polymorphisms could be used as one of the genetic determinants of bone mass in elderly women, and in particular, they indicate that individuals with the RR genotype have higher BMD and bone mineral composition.

KEYWORDS ACTN3. SNP. Turkey. Athletic performance. Association. Elite Athletes ABSTRACT Physical performance has been associated with many gene variants including the alpha-actinin-3 gene (ACTN3) R577X polymorphism. The purpose of the present study is to investigate whether there is an association between sport performance of Turkish elite athletes and alpha-actinin-3 gene R577X polymorphism. A total of 300 individuals (150 elite athletes and 150 sedentary individuals) participated in the study voluntarily. A 291-bp long region spanning the R577X polymorphic site of the alpha-actinin-3 gene was amplified and tested with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method. The statistical analyses were done by using SPSS 15.0 package program. Although, no significant difference was found between the distributions of the three genotypes of elite athletes and sedentary individuals, the frequency of XX genotype in sedentary individuals was lower than that of the elite athletes (p>0.05). The RX and XX frequencies were significantly different (P

**Background**\ud \ud Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.\ud \ud **Methods**\ud \ud We collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.\ud \ud **Results**\ud \ud There was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.\ud \ud **Conclusions**\ud \ud Thus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.

Made available in DSpace on 2018-12-11T16:47:37Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-01-01 Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) This study investigated whether ACTN3 R577X, AMPD1 C34T, I/D ACE, and M235T AGT polymorphisms can affect performance tests such as jumping, sprinting, and endurance in 220 young male athletes from professional minor league soccer team from São Paulo Futebol Clube, Brazil. I/D ACE and M235T AGT polymorphisms were also analyzed according to cardiac and hemodynamic parameters. Athletes were grouped or not by age. DNA from saliva and Taqman assays were used for genotyping 220 athletes and the results were associated with performance tests. Ventricle mass, ventricle end-diastolic diameter, enddiastolic volume, and ejection fraction were assessed by echocardiogram. Arterial pressure, heart rate, and oximetry were assessed by a cardioscope. The main results of this study were that athletes who carried RR/RX (ACTN3) and DD (ACE) genotypes presented better performance during jump and sprint tests. On the other hand, athletes with ID/II genotype presented better results during endurance test, while AGT genotypes did not seem to favor the athletes during the evaluated physical tests. CC genotype (AMPD1) only favored the athletes during 10-m sprint test. Although there are environmental interactions influencing performance, the present results suggest that RR/RX ACTN3 and ACE DD genotypes may benefit athletes in activities that require strength and speed, while II ACE genotype may benefit athletes in endurance activities. This information could help coaches to plan the training session to improve the athletes’ performance. Joint Graduate Program in Physiological Sciences PIPGCF UFSCar/UNESP Bauru School of Dentistry University of São Paulo State University of Campinas Institute of Bioscience University of São Paulo State (UNESP) Physiological Sciences PIPGCF UFSCar/UNESP Joint Graduate Program in Physiological Sciences PIPGCF UFSCar/UNESP Institute of Bioscience University of São Paulo State (UNESP) Physiological Sciences PIPGCF UFSCar/UNESP CNPq: 140206/2011-6 FAPESP: 2011/21586-8

We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races

Jun Ho Kim, Eun Sun Jung, Chul-Hyun Kim, Hyeon Youn and Hwa Rye Kim. Genetic associations of body composition, flexibilityand injury risk with ACE, ACTN3and COL5A1polymorphisms in Korean ballerinas. JENB., Vol. 18, No. 2, pp.205-214, 2014[Purpose] The purpose of this study was to exam the association of body composition, flexibility, and injury risk to genetic polymorphismsincluding ACEID, ACTN3RX, and COL5A1polymorphisms in ballet dancers in Korea. [Methods]For the purpose of this study,elite ballerinas (n = 97) and normal female adults (n = 203) aged 18 to 39 were recruited and these participants were tested forbody weight, height, body fat, fat free mass, flexibility, injury risks on the joints and gene polymorphisms (ACE, ACTN3, COL5A1polymorphism). [Results]As results, the ACEDD genotype in ballerinas was associated with higher body fat and percentageof body fat than the ACEII and ID genotypes (p< 0.05). In the study on the ACTN3polymorphism and ballerinas, the XXgenotype in ballerinas had lower body weight and lower fat-free mass than the RR and RX genotype (p < 0.005). Also, the meansof sit and reach test for flexibility was lower in the ACTN3XX genotype of ballerinas than the RR and RX genotype of ballerinas(p< 0.05). Among the sports injuries, the ankle injury of the XX-genotyped ballerinas was in significantly more prevalence thanthe RR and XX-genotyped ballerinas (p< 0.05). According to the odd ratio analysis, XX-genotyped ballerinas have the injuryrisk on the ankle about 4.7 (95% CI: 1.6~13.4, p< 0.05) times more than the RR and RX-genotyped ballerinas. Meanwhile, theCOL5A1polymorphism in ballerinas has no association with any factors including flexibility and injury risks. [Conclusion]Inconclusion, ACEpolymorphism and ACTN3polymorphism were associated with ballerinas` performance capacity; COL5A1wasnot associated with any factors of performance of Ballerinas. The results suggested that the ACEDD genotype is associated withhigh body fat, the ACTN3XX genotype is associated with low fat-free mass, low flexibility, and higher risk of ankle-joint injury. [Keyword]ballet, flexibility, body composition, injury risk, ACE, ACTN3, COL5A1

ACTN3 encodes the protein &alpha, actinin-3, which affects the muscle phenotype. In the present study, we examined the association of ACTN3 R577X polymorphism with body somatotype and cardiorespiratory fitness in young, healthy adults. The study group included 304 young adults, in whom cardiorespiratory fitness was evaluated and the maximum oxygen uptake was determined directly. The somatotype components were calculated according to the Heath-Carter method. Genotyping for the ACTN3 gene was performed using a polymerase chain reaction followed by high-resolution melting analysis. In the female group, a lower maximal heart rate (HRmax) was more strongly associated with the RR genotype (p = 0.0216) than with the RX and XX genotypes. In the male group, the ACTN3 RX genotype, as compared with other genotypes, tended to be associated with a lower percentage of adipose tissue (p = 0.0683), as also reflected by the body mass index (p = 0.0816). ACTN3 gene polymorphism may affect cardiorespiratory fitness. Our analysis of ACTN3 gene polymorphism does not clearly illustrate the relationships among genotype, body composition, and somatotype in young, healthy adults.

Bakgrunn: Betydningen av fysisk aktivitet og dens helsefremmende effekt har lenge vært godt dokumentert og er velkjent for folk flest. Men vil disse helsefremmende effektene gjøre seg gjeldende for alle? Man har også sett en sammenheng mellom genotyper og innvirkning på fysiologiske/biologiske systemer som kan ha betydning for fysiologisk respons til trening, samt tilknytning til fysisk aktivitetsnivå. Målet med denne studien ble derfor å kartlegge hvor aktive middelaldrende kvinner og menn i Telemark er, og hvilken aerob kapasitet de nødvendigvis må inneha for å kunne ha dette aktivitetsnivået. Denne studien ville også se på i hvilken grad forskjeller i aktivitetsnivå styres av arv og miljø, og om det var mulig å finne relasjoner mellom genotyper og fysisk aktivitets- og kapasitetsnivå. Metode: Deltagerne i studien besto av 1268 tilfeldig utvalgte personer, i alderen 50 til 64 år, fra en relativ homogen gruppe av kaukasisk opprinnelse. Aktivitetsdata ble innhentet ved hjelp av spørreskjema som ga videre grunnlag for kapasitetsdata. For å se etter relasjon mellom aktivitets- og kapasitetsdataene og ulike genotyper, ble ACE- og ACTN3-polymorfismen identifisert hos 1079 personer. Resultater: Ingen signifikante forskjeller ble funnet mellom deltagerne, heller ikke mellom kjønn, i alder eller BMI. Fordeling av genotypene var 23.7 % II, 52.7 % ID og 23.6 % DD for ACE. For ACTN3 fordelte genotypene seg 31 % RR, 49 % RX og 21 % XX. Frekvensen av genotypene var innenfor forventninger fra Hardy-Weinberg likevekt hos begge; ACE (?2 = 2.0778, p = 0.3539, df = 2), ACTN3 (?2= 0.1481, p = 0.9286, df = 2). Aktivitetsdata viste at 80 % av deltagerne befinner seg i kategorien >10 MET. Kvinner viste signifikant mer fysisk aktivitet enn menn (p

[Purpose] The purpose of this study was to determine the interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency changes in combat sports athletes. [Methods] Six types of combat sports athletes (Judo, Taekwondo, boxing, kendo, wrestling, and Korean Ssi-reum) participated in the study. ATCN3 gene polymorphism and muscle imbalance in lower extremity were evaluated followed by analysis of differences of moment in hip, knee, and ankle joint during V-cut jumping and stop. To examine the moment difference due to an interaction of ATCN3 polymorphism and muscle imbalance, all participants were divided into 4 groups (R+MB, R+MIB, X+MB, and X+MIB). [Results] There was no significant difference of hip, knee, and ankle joint moment in R allele and X allele during V-cut jumping and stop based on ACTN3 gene polymorphism. Otherwise, muscle imbalance of knee moment in X-axis and ground reaction force of knee in Z-axis showed a higher significance in muscle imbalance during V-cut jumping and stop compared to muscle balance (p

To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. The aim of this study was to examine the association between these variants and sprint time in elite athletes. We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants. On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively. Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final. Sin financiación 3.729 JCR (2016) Q1, 35/160 Biotechnology and Applied Microbiology; Q2, 50/167 Genetics and Heredity 2.163 SJR (2016) Q1, 20/358 Biotechnology, 52/351 Genetics No data IDR 2016 UEM

The aim of this study was to determine the allelic distribution of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) I/D polymorphisms in a total of 24 elite young basketball players, 17 female and 7 male. DNA samples from the players were isolated from buccal cells by using commercial DNA isolation kit. Genotyping process for ACTN3 was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP), and PCR for ACE. 16 of the examined players had RR, 6 had RX and 2 of the players had XX genotype for the ACTN3 R577X polymorphism. When we examine them according to genders, 11 of the 17 female players had RR, 4 had RX and 2 had XX genotypes. For males, 5 and 2 players had RR and RX genotypes, respectively. For ACE, 11 players were DD, 12 were ID and only one of them was II. 7 had DD and 10 had ID genotypes for the females; 4 had DD, 2 had ID and only one had II genotype. R allele of the ACTN3 was counted as 26 in females and 12 in males, whereas X allele was 8 in females and 2 in males. For ACE, D allele was counted as 24 in females and 10 in males, whereas I allele counted as 10 in females and 4 in males. Our results showed that ACTN3 RR genotype and R allele,ACE ID geotype and D allele dominated in our cohort. We hope that this first pilot study carried out in basketball players will guide further studies with extended numbers of players., Çalışmamızda 17’si kız, 7’ si erkek 24 genç basketbol oyuncusunda alfa- aktinin-3 (ACTN3) R577X ve anjiyotensin dönüştürücü enzim (ACE) I/D polimorfizmlerinin dağılımlarının belirlemeyi amaçladık. Çalışmamıza gönüllü katılan oyunculardan DNA eldesi, ağız içi epitel hücrelerinden ticari kit kullanılarak gerçekleştirilmiştir. ACNT3 genotiplemesi için polimeraz zincir reaksiyonu- restriksiyon enzimi kesimi (PCR- RFLP) metodu, ACE içinse PCR metodu kullanılmıştır. ACTN3 genotipi için 16 oyuncu RR, 6’ sı RX ve 2 oyuncu da XX olarak bulunmuştur. Cinsiyetlerine göre ayırdığımızda 17 kız oyuncunun 11’i RR, 4’ü RX ve 2’si XX, erkeklerde disise 5 ve 2 oyuncu sırasıyla RR ve RX genotiplerinde bulunmuştur. ACE için, 11 oyuncu DD, 12 oyuncu ID ve sadece 1 oyuncu II genotipindedir. Cinsiyetlerine göre incelediğimizde kızlarda 7 oyuncu DD, 10 oyuncu ID genotipinde, erkelerde ise 4 oyuncu DD, 2 oyuncu ID ve yalnız 1 oyuncu II genotipindedir. ACTN3 R alleli kızlarda 26, erkeklerde 12, X alleli ise kızlarda 8, erkeklerde 2 olarak bulunmuştur. ACE genotipi için D alleli kızlarda 24, erkeklerde 10, I alleli ise kızlarda 10 ve erkeklerde 4 olarak saptanmıştır. Bu çalışmamızda ACTN3 DD genotipinin ve R alleinin, ACE polimorfizminde ise ID genotipinin ve D alleinin çalışma grubunda daha baskın olduğu görülmüştür. Bu oyuncu grubunda ilk kez gerçekleştirilen bu pilot çalışma ile bundan sonra daha yüksek veri kaynaklı çalışmalara ışık tutacağı inancındayız.

The aim of the present study was to review the evidence on the relationship between the R577X polymorphism of the ACTN3 gene and sports performance. The Pubmed database was searched using ACTN3 gene AND sports performance as keywords. The ACTN3 gene encodes a muscle-specific protein, called α-actinin-3, which is only present in type II fibers. Most studies have demonstrated a relationship between the presence of α-actinin-3 and the ability of muscle to generate force. However, recent studies suggest that the absence of the functional form of this protein may regulate substrate utilization during exercise, giving priority to oxidative metabolism, sparing muscle glycogen, and improving performance in long-duration events. Nevertheless, further studies involving humans are needed to better understand the metabolic role of this protein. O presente estudo revisou evidências acerca da relação entre o polimorfismo R577X do gene ACTN3 e o desempenho esportivo. Foram acessados estudos na base Pubmed através das palavras-chave: ACTN3 gene e sports performance. O gene ACTN3 codifica para uma proteína presente nas fibras musculares esqueléticas tipo II, a α-actinina-3. A maioria dos estudos demonstra uma relação entre a presença da α-actinina-3 e a capacidade de geração de força muscular. Porém, estudos recentes apontam que a ausência da forma funcional dessa proteína pode regular a utilização de substratos durante o exercício, priorizando o metabolismo oxidativo, poupando glicogênio muscular e favorecendo o desempenho em atividades de longa duração. Porém, ainda são necessários mais estudos envolvendo humanos para elucidar melhor esse papel metabólico.

ACE (I/D), ACTN3 (R/X), PPARGC1A (Gly482Ser) and PPARA (G/C) polymorphisms have been linked to the success in power-oriented sports through the intermediate phenotypes. The study involved 193 Lithuanian elite athletes and 250 controls. The measured phenotypic variables included short-term explosive muscle power (STEMP) and anaerobic alactic maximum power (AAMP). ACE DD genotype was more common among endurance athletes compared to the power athletes. The ACTN3 genotype frequencies of the elite athletes differed from those of non-elite athletes; however, there were no differences among the athletes and the control group across the PPARGC1A Gly482Ser genotypes. The frequency of PPARA CC genotype increased with the growing skill level of athletes (non-elite 2%, sub-elite 7.7%, elite 11.6%). The STEMP and AAMP were higher in the males than females and they were also higher in the power-oriented group compared to the endurance sports group. Success in power sports can be attributed to the ACE II, PPARGC1A SerSer, PPARA CC genotype in association with phenotypic characteristics such as AAMP and STEMP. ACTN3 XX genotype may not be critical but rather additive to endurance performance. The results show that high muscle power depends on both environmental and genetic factors.

Background. We aim to link fitness-related genotypes to the development of specific physical fitness phenotypes and a predisposition towards a specific sport category in Lithuanian elite athletes. Materials and methods. The study involved 193 athletes (152 male and 41 female) and 250 controls. The athletes were stratified into four groups: endurance, mixed sports, speed / power, and team sports. Genotypes of the athletes were identified according to the genetic polymorphisms: ACE (rs1799752), ACTN3 (rs1815739), PPARGC1A (rs8192678) and PPARA (rs4253778). One-way analysis of variance and logistic regression modelling were used for testing the genotype–phenotype association. Results. The frequency of ACE I allele was higher in athletes than in controls, although only male athletes showed a significant difference from male controls. The PPARA C allele was more common in the athlete group than in the general population of Lithuania. There were no significant ACTN3 and PPARGC1A SNP allele / genotype frequency differences between the athlete group and the controls. We have found that the ACTN3 RR genotype is associated with single muscular contraction power; the PPARGC1A Ser482Ser was associated with the muscle fat mass index; the PPARA CC and ACE II genotypes are associated with the muscle mass and single muscular contraction power. The effect of the gene variants was different for male and female athletes. Conclusions. The ACE II, PPARA CC, ACTN3 RR genotypes are related to the speed/power sports and the ACE DD, PPARA GG are related to the endurance sports in Lithuanian athletes. PPARGC1A Ser482Ser may be not critical but rather additive to endurance performance. Keywords: physical performance, ACE, ACTN3, PPARGC1A and PPARA genetic variants, sport category

Bakalaureusetöö „Kehalise võimekusega seotud ACE ja ACTN3 geenide polümorfismid ja nende variatsioonide sagedusnäitajad Eesti tippsportlastel“ kirjanduse ülevaates uuriti ülevaatlikult spordialade klassifitseerimist, vastupidavus- ja jõu-kiirusalade erisusi, ACE ja ACTN3 geene ja nende polümorfisme. Eksperimentaalosa eesmärgiks oli analüüsida ACE I/D ja ACTN3 R577X polümorfismide genotüüpide jaotuvust Eesti rahvuskoondistesse kuuluvatel sportlastel ning võrrelda geenivariatsioonide sagedusnäitajaid valdavalt vastupidavusele ja jõule-kiirusele orienteeritud spordialade rühmade ja kontrollrühma vahel. Meie uuringust selgus, et vastupidavus- ja kiirus-jõualade omavahelises võrdluses esines ainult ACTN3 RR genotüüpi sagedamini, mis jäi siiski statistiliselt ebaoluliseks.

RESUMO O objetivo deste estudo foi analisar a associação dos polimorfismos genéticos I/D da enzima conversora de angiotensina (ECA) e R/X da proteína alfa-actinina 3 (ACTN3) com capacidade funcional e prevalência de quedas em mulheres no final da idade adulta e início da terceira idade. Foram genotipadas 60 mulheres e com base nestas características genéticas foram divididas em grupos e submetidas a medidas de estatura, massa corporal, testes de força de preensão manual, sentar e levantar, coordenação, alcance funcional e alcance lateral, além de responderem a um questionário sobre o nível de atividade física. Os resultados mostraram que não houve diferença estatística entre os genótipos da ECA e da ACTN3 em nenhuma variável. Porém, em relação aos polimorfismos da ACTN3, a prevalência de quedas no grupo XX foi em termos descritivos consideravelmente maior do que a do grupo RR/RX (42% versus 21% em um ano). ABSTRACT The objective of this study was to analyze the association of angiotensin-converting enzyme (ACE) I/D and alpha-actinin 3 (ACTN3) R/X genetics polymorphisms with functional capacity and fall prevalence in women in late adulthood and early old age. Sixty women were genotyped and based on these genetic characteristics they were separated in groups and submitted to measurements of height, body mass, handgrip test, chair stand test, coordination test, functional reach test and lateral reach test, besides answering a questionnaire about the level of physical activity. Results showed no statistical difference between ACE and ACTN3 genotypes in all variables. However, regarding ACTN3 polymorphisms, fall prevalence in group XX was bigger than in the RR/RX group (42% versus 21% in a year) using descriptive statistics.

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).

A disparity population data set in the current literature with limited reports among Asian samples, coupled with the inconsistent findings among different ethnic groups, and lack of information for the involvement of angiotensin I-converting enzyme (ACE) I/D and alpha-actinin-3 (ACTN3) R/X gene polymorphisms in training adaptation have limited the ability of researchers to draw meaningful conclusions pertaining to the effects of these polymorphisms on human physical performance and health. Therefore, this doctoral research implemented three series of studies to examine the effects of ACE I/D and ACTN3 R/X gene polymorphisms on human physical performance and health within the Malaysian population. In the first study, DNA samples were retrieved via buccal cell from 180 Asians from Malaysia (70 males, 110 females) aged 20.4 ± 1.6 years, and 180 Caucasians from Australia (62 males, 118 females) aged 23.3 ± 3.6 years. In the second study, DNA samples were retrieved from 180 well-trained Malaysian athletes (148 males, 32 females) aged 20.5 ± 1.9 years, 180 Malaysian sedentary controls, and 33 intermittent Australian athletes (all males) aged 20.7 ± 4.0 years. Endurance and muscular performances of Malaysian athletes were evaluated with 20 meters Yo-Yo intermittent recovery level 2 and maximal voluntary contraction tests, respectively. In the third study, thirty normotensive, untrained males (ACE genotype: II = 10, ID = 10, and DD = 10), undergone isometric handgrip training (four sets of 2 minutes isometric contractions at 30% of maximal voluntary contraction, with 1 minute resting interval) 3 days per week for 8 weeks. The result from the first study indicated that the distribution of ACE I/D gene polymorphism varied among different ethnic groups, but not to ACTN3 R/X gene polymorphism. The findings obtained from the second study demonstrated that: a) The effects of these polymorphisms on endurance and strength/power performances did not vary by ethnicity, b) The ACE D allele and ACTN3 R allele conferred an advantage in activities that require strength/power, and c) The ACE I allele and ACTN3 X allele did not influence endurance performance. Finding from the final study demonstrated that ACE I/D gene polymorphism had a positive influence in cardiovascular and muscular adaptations following isometric handgrip training among normotensive men. Overall, this research reaffirms the notion that strength/power performance is influenced by the ACE D allele and ACTN3 R allele. In addition, this research concludes that the ACE I/D gene polymorphism modulates response to isometric handgrip training in normotensive men.

El objetivo del presente estudio fue analizar la respuesta muscular a un entrenamiento pliométrico en función del genotipo de ACTN3, mediante la valoración de la evolución de la capacidad de salto, en un grupo de personas físicamente activas. Se utilizó un diseño experimental con medidas pre-post. Se evaluaron 68 personas jóvenes (21,98 ± 3,20 años) en 4 momentos de tiempo a lo largo de 48 horas. Se analizaron los saltos verticales Squat Jump, Counter Movement Jump y Drop Jump. El análisis de resultados se realizó con un ANOVA mixto de 3x4. La distribución de los genotipos de ACTN3, fue estadísticamente diferente en comparación con la mostrada en estudios que evalúan deportistas de potencia/velocidad, pero no así con los estudios que evalúan a deportistas de resistencia o a no deportistas. En cuanto al análisis del efecto del entrenamiento pliométrico, no se obtuvieron diferencias estadísticamente significativas ni de forma grupal ni de forma segregada en función del genotipo. En conclusión, los genotipos del gen ACTN3 no parecen modificar la altura alcanzada en los saltos tras realizar el entrenamiento pliométrico propuesto en el estudio. Sin financiación No data 2015 UEM

Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE. For ACE genotype, 16%, 44%, and 40% of the players had insertion/insertion (II), insertion/deletion (ID), and deletion/deletion (DD) genotypes, respectively, whereas 20% had XX, 36% had RX, and 44% had RR genotypes for ACTN3. When we examined the allelic percentages, for ACE, D allele was recorded as 62 and I as 38, and for ACTN3, R allele was 62 and X was 38. Our results were in agreement with the previous reports, indicating the presence of ACTN3 D and ACE X allele in soccer players. We suggest that ACE and ACTN3 genotypes are important biomarkers for genetic counseling for the individuals who are prone to be successful soccer players.