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https://www.readbyqxmd.com/read/28817413/actn3-r577x-polymorphism-is-associated-with-the-incidence-and-severity-of-injuries-in-professional-football-players
#1
Massidda Myosotis, Voisin Sarah, Culigioni Claudia, Piras Francesco, Cugia Paolo, Yan Xu, Eynon Nir, Carla M Calò
OBJECTIVE: The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players. DESIGN: A case-control, genotype-phenotype association study. INTERVENTION: Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21...
August 16, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28759732/therapeutic-effects-of-doxycycline-on-the-quality-of-repaired-and-unrepaired-achilles-tendons
#2
Quynhhoa T Nguyen, Jolanta B Norelli, Adam Graver, Charles Ekstein, Johnathan Schwartz, Farzana Chowdhury, Mark C Drakos, Daniel A Grande, Nadeen O Chahine
BACKGROUND: Achilles tendon tears are devastating injuries, especially to athletes. Elevated matrix metalloproteinase (MMP) activity after a tendon injury has been associated with deterioration of the collagen network and can be inhibited with doxycycline (Doxy). HYPOTHESIS: Daily oral administration of Doxy will enhance the histological, molecular, and biomechanical quality of transected Achilles tendons. Additionally, suture repair will further enhance the quality of repaired tendons...
July 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28738670/antidoping-program-an-important-factor-in-the-promotion-and-protection-of-the-integrity-of-sport-and-athlete-s-health
#3
Filomena Mazzeo, Vincenzo Monda, Stefania Santamaria, Ersilia Nigro, Anna Valenzano, Ines Villano, Giuseppe Cibelli, Antonietta Messina, Giovanni Messina
Use of performance-enhancing drugs concern not only elite Olympic and Paralympic Games' athletes but also amateur athletes, who are making increasing use of substances and/or methods. Furthermore, a new frontier reached by the doping is the use of genes. World Anti- Doping Agency (WADA), expressly prohibited the participation in competitive sports by the athlete in case of taking banned substances to treat disease in the event that the above assumption implies an excessive improvement of performance. This study aims to analyze and show the doping control as an essential part of the anti-doping program to promote and protect the integrity of sport and athlete's health...
July 24, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28721121/does-the-injection-of-platelet-rich-plasma-induce-changes-in-the-gene-expression-and-morphology-of-intact-thoroughbred-skeletal-muscle
#4
Kentaro Fukuda, Hirofumi Miyata, Atsutoshi Kuwano, Taisuke Kuroda, Norihisa Tamura, Yasumitsu Kotoyori, Yoshinori Kasashima
Platelet-rich plasma (PRP) therapy is promising for treating skeletal muscle injuries in human athletes by promoting muscle regeneration. It might also be useful for treating muscle injuries in equine athletes. In the present study, muscle regeneration induced by injection of PRP into intact muscle of Thoroughbred was investigated. Autologous PRP and saline were injected twice into intact left and right gluteus medius muscles of seven clinically healthy Thoroughbreds. Muscle samples were collected from the injection sites by needle biopsy at 2 and 7 days after PRP injection...
2017: Journal of Equine Science
https://www.readbyqxmd.com/read/28708709/genetics-influence-neurocognitive-performance-at-baseline-but-not-concussion-history-in-collegiate-student-athletes
#5
Graham D Cochrane, Mark H Sundman, Eric E Hall, Matthew C Kostek, Kirtida Patel, Kenneth P Barnes, Caroline J Ketcham
OBJECTIVE: This study investigates 4 single-nucleotide polymorphisms [Apolipoprotein E (APOE), APOE promoter, catechol-O-methyl transferase (COMT), and dopamine D2 receptor] that have been implicated in concussion susceptibility and/or cognitive ability in collegiate student-athletes. DESIGN: Cross-sectional study. SETTING: Neuroscience laboratory at Elon University. PARTICIPANTS: Two hundred fifty division I collegiate student-athletes (66 women, 184 men) from various sports...
July 11, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28687478/factors-influencing-the-phenotypic-expression-of-hypertrophic-cardiomyopathy-in-genetic-carriers
#6
Inmaculada Pérez-Sánchez, Antonio José Romero-Puche, Esperanza García-Molina Sáez, María Sabater-Molina, José María López-Ayala, Carmen Muñoz-Esparza, David López-Cuenca, Gonzalo de la Morena, Francisco José Castro-García, Juan Ramón Gimeno-Blanes
INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. METHODS: We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations...
July 4, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28645497/an-association-between-polymorphisms-within-the-apoe-gene-and-concussion-aetiology-in-rugby-union-players
#7
Shameemah Abrahams, Sarah Mc Fie, Jon Patricios, Jason Suter, Michael Posthumus, Alison V September
OBJECTIVES: Concussion refers to changes in neurological function due to biomechanical forces transmitted to the head. The APOE ε4 allele is associated with brain injury severity. The objective was to determine if APOE gene variants are associated with concussion history and severity in rugby players. DESIGN: In total, 128 non-concussed controls and 160 previously concussed participants (all cases N=160; diagnosed N=139) were recruited from high school (junior, N=121), club (N=116) and professional rugby teams (N=51)...
June 8, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28589135/effect-of-lower-and-upper-body-high-intensity-training-on-genes-associated-with-cellular-stress-response
#8
Małgorzata Żychowska, Andrzej Kochanowicz, Kazimierz Kochanowicz, Jan Mieszkowski, Bartłomiej Niespodziński, Stanisław Sawczyn
This study aimed to compare the effect of upper and lower body high intensity exercise (HIE) on select gene expression in athletes. Fourteen elite male artistic gymnasts (age 20.9 ± 2.6 years; weight 68.6 ± 7.2 kg; fat free mass 63.6 ± 6.7 kg; height 1.70 ± 0.04 m) performed lower and upper body 30 s Wingate Tests (WAnTs) before and after eight weeks of specific HIIT. Two milliliters of blood was collected before and after (5, 30 min, resp.) lower and upper body WAnTs, and select gene expression was determined by PCR...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28571016/next-generation-omics-approaches-in-the-fight-against-blood-doping
#9
Guan Wang, Antonia Karanikolou, Ioanna Verdouka, Theodore Friedmann, Yannis Pitsiladis
Despite being prohibited by the World Anti-Doping Agency (WADA), blood manipulations such as the use of recombinant human erythropoietin and blood transfusions are a well-known method used by athletes to enhance performance. Direct detection of illicit blood manipulation has been partially successful due to the short detection window of the substances/methods, sample collection timing, and the use of sophisticated masking strategies. In response, WADA introduced the athlete biological passport (ABP) in 2009, which is an individualised longitudinal monitoring approach that tests primarily haematologic biomarkers of doping in order to identify atypical variability in response(s) in athletes, highlighting a potential doping violation...
2017: Medicine and Sport Science
https://www.readbyqxmd.com/read/28541413/the-influence-of-the-apolipoprotein-e-apoe-gene-on-subacute-post-concussion-neurocognitive-performance-in-college-athletes
#10
Victoria C Merritt, Amanda R Rabinowitz, Peter A Arnett
Objective: The purpose of this study was to determine whether the ε4 allele of the APOE gene influences neurocognitive outcome following sports-related concussion. It was hypothesized that participants with an ε4 allele would show poorer neurocognitive performance and greater neurocognitive variability than those without an ε4 allele. Method: Participants included 57 concussed collegiate athletes (77.2% male) who participated in a concussion management program at a large university...
May 24, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28521375/a-genetic-marker-associated-with-shoulder-dislocation
#11
Stuart Kim, John P Kleimeyer, Marwa A Ahmed, Andy L Avins, Michael Fredericson, Jason L Dragoo, John P A Ioannidis
Shoulder dislocations are common shoulder injuries associated with athletic activity in contact sports, such as football, rugby, wrestling, and hockey. Identifying genetic loci associated with shoulder dislocation could shed light on underlying mechanisms for injury and identify predictive genetic markers. To identify DNA polymorphisms associated with shoulder dislocation, a genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 662 cases of shoulder dislocation and 82 602 controls from the European ancestry group...
July 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28482362/two-genetic-loci-associated-with-medial-collateral-ligament-injury
#12
Andrew K Roos, Andy L Avins, Marwa A Ahmed, John P Kleimeyer, Thomas R Roos, Michael Fredericson, John P A Ioannidis, Jason L Dragoo, Stuart Kim
Medial collateral ligament (MCL) injuries are a common knee injury, especially in competitive athletes. Identifying genetic loci associated with MCL injury could shed light on its etiology. A genome-wide association screen was performed using data from the Research Program in Genes, Environment and Health (RPGEH) including 1 572 cases of MCL injury and 100 931 controls. 2 SNPs (rs80351309 and rs6083471) showed an association with MCL injury at genome-wide significance (p<5×10(-8)) with moderate effects (odds ratios=2...
July 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28416896/actn3-r577x-genotype-and-performance-of-elite-middle-long-distance-swimmers-in-china
#13
Y C Li, L Q Wang, L Y Yi, J H Liu, Y Hu, Y F Lu, M Wang
The ACTN3 gene is one of the genes that have a potential influence on physical performance. Studies have shown that the 577R genotype of ACTN3 is more prevalent in sprint athletes, while the 577X genotype is more prevalent in endurance athletes. In swimming, both power and endurance related phenotypes are equally needed for swimmers to excel at the elite level. Therefore, the ACTN3 R577X polymorphism may become a genetic marker for swimmers. The study aimed to examine the association of the ACTN3 R577X genotype with the performance of elite middle-long distance (MLD) swimmers...
March 2017: Biology of Sport
https://www.readbyqxmd.com/read/28416894/letter-to-the-editor-a-genetic-based-algorithm-for-personalized-resistance-training
#14
A Karanikolou, G Wang, Y Pitsiladis
In a recent paper entitled "A genetic-based algorithm for personalized resistance training", Jones et al. [1] presented an algorithm of 15 performance-associated gene polymorphisms that they propose can determine an athlete's training response by predicting power and endurance potential. However, from the design of their studies and the data provided, there is no evidence to support these authors' assertions. Progress towards such a significant development in the field of sport and exercise genomics will require a paradigm shift in line with recent recommendations for international collaborations such as the Athlome Project (see www...
March 2017: Biology of Sport
https://www.readbyqxmd.com/read/28358823/genome-wide-association-screens-for-achilles-tendon-and-acl-tears-and-tendinopathy
#15
Stuart K Kim, Thomas R Roos, Andrew K Roos, John P Kleimeyer, Marwa A Ahmed, Gabrielle T Goodlin, Michael Fredericson, John P A Ioannidis, Andrew L Avins, Jason L Dragoo
Achilles tendinopathy or rupture and anterior cruciate ligament (ACL) rupture are substantial injuries affecting athletes, associated with delayed recovery or inability to return to competition. To identify genetic markers that might be used to predict risk for these injuries, we performed genome-wide association screens for these injuries using data from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort consisting of 102,979 individuals. We did not find any single nucleotide polymorphisms (SNPs) associated with either of these injuries with a p-value that was genome-wide significant (p<5x10-8)...
2017: PloS One
https://www.readbyqxmd.com/read/28349656/equine-performance-genes-and-the-future-of-doping-in-horseracing
#16
Tessa Wilkin, Anna Baoutina, Natasha Hamilton
A horse's success on the racetrack is determined by genetics, training and nutrition, and their translation into physical traits such as speed, endurance and muscle strength. Advances in genetic technologies are slowly explaining the roles of specific genes in equine performance, and offering new insights into the development of novel therapies for diseases and musculoskeletal injuries that cause early retirement of many racehorses. Gene therapy approaches may also soon provide new means to artificially enhance the physical performance of racehorses...
March 27, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28337894/actn3-ace-genotypes-and-mitochondrial-genome-in-professional-soccer-players%C3%A2-performance
#17
V Galeandro, A Notarnicola, A Bianco, S Tafuri, L Russo, V Pesce, B Moretti, V Petruzzella
Two nuclear genes, ACTN3, encoding for the α-actinin skeletal muscle isoform 3, and ACE encoding the angiotensin-converting enzyme, have both been associated with quantitative physical performance traits in the general population. The purpose of our study was to assess the association between the two nuclear gene variants, R577X (rs1815739) in ACTN3 and I/D (rs4340) in ACE, with elite athletes’ performance and the effect of training on the mitochondrial DNA (mtDNA) content in peripheral blood. We evaluated the genotypes and frequencies of ACTN3 R577X and ACE I/D polymorphisms between soccer players (n = 43) and healthy non-athletic controls (n = 128)...
January 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28332118/nutrition-and-training-influences-on-the-regulation-of-mitochondrial-adenosine-diphosphate-sensitivity-and-bioenergetics
#18
REVIEW
Graham P Holloway
Since the seminal finding almost 50 years ago that exercise training increases mitochondrial content in skeletal muscle, a considerable amount of research has been dedicated to elucidate the mechanisms inducing mitochondrial biogenesis. The discovery of peroxisome proliferator-activated receptor γ co-activator 1α as a major regulator of exercise-induced gene transcription was instrumental in beginning to understand the signals regulating this process. However, almost two decades after its discovery, our understanding of the signals inducing mitochondrial biogenesis remain poorly defined, limiting our insights into possible novel training modalities in elite athletes that can increase the oxidative potential of muscle...
March 2017: Sports Medicine
https://www.readbyqxmd.com/read/28240702/utility-of-genetic-testing-in-elite-volleyball-players-with-aortic-root-dilation
#19
Nicole Herrick, Christopher Davis, Lisa Vargas, Hal Dietz, Paul Grossfeld
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan syndrome. Consequently, identification of these abnormalities can be lifesaving. PURPOSE: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. METHODS: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva...
July 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28230530/developing-a-multi-component-immune-model-for-evaluating-the-risk-of-respiratory-illness-in-athletes
#20
Maree Gleeson, David B Pyne, Lisa J Elkington, Sharron T Hall, John R Attia, Christopher Oldmeadow, Lisa G Wood, Robin Callister
Clinical and laboratory identification of the underlying risk of respiratory illness in athletes has proved problematic. The aim of this study was to determine whether clinical data, combined with immune responses to standardised exercise protocols and genetic cytokine polymorphism status, could identify the risk of respiratory illness (symptoms) in a cohort of highly-trained athletes. Male endurance athletes (n=16; VO2max 66.5 ± 5.1 mL.kg-1.min-1) underwent a clinical evaluation of known risk factors by a physician and comprehensive laboratory analysis of immune responses both at rest and after two cycling ergometer tests: 60 min at 65% VO2max (LONG); and 6 x 3 min intervals at 90% VO2max (INTENSE)...
2017: Exercise Immunology Review
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