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GENES AND SPORTS

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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
#1
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/28708709/genetics-influence-neurocognitive-performance-at-baseline-but-not-concussion-history-in-collegiate-student-athletes
#2
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/28670860/transcriptomic-biomarkers-of-altered-erythropoiesis-to-detect-autologous-blood-transfusion
#3
Olivier Salamin, Jonathan Mignot, Tiia Kuuranne, Martial Saugy, Nicolas Leuenberger
Autologous blood transfusion is a powerful means to improve performance and remains one of the most challenging method to detect. Recent investigations have identified three candidate reticulocytes genes whose expression was significantly influenced by blood transfusion. Using quantitative reverse transcription polymerase chain reaction as alternative quantitative method, the present study supports that delta-aminolevulinate synthase 2 (ALAS2), carbonic anhydrase (CA1) and solute carrier family 4 member 1 (SLC4A1) genes are down-regulated post-transfusion...
July 3, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28595329/a-mechanism-for-a-single-nucleotide-intron-shift
#4
Erzsébet Fekete, Michel Flipphi, Norbert Ág, Napsugár Kavalecz, Gustavo Cerqueira, Claudio Scazzocchio, Levente Karaffa
Spliceosomal introns can occupy nearby rather than identical positions in orthologous genes (intron sliding or shifting). Stwintrons are complex intervening sequences, where an 'internal' intron interrupts one of the sequences essential for splicing, generating after its excision, a newly formed canonical intron defined as 'external'. In one experimentally demonstrated configuration, two alternatively excised internal introns, overlapping by one G, disrupt respectively the donor and the acceptor sequence of an external intron, leading to mRNAs encoding identical proteins...
June 8, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28578328/gene-and-cell-doping-the-new-frontier-beyond-myth-or-reality
#5
Elmo W I Neuberger, Perikles Simon
The advent of gene transfer technologies in clinical studies aroused concerns that these technologies will be misused for performance-enhancing purposes in sports. However, during the last 2 decades, the field of gene therapy has taken a long and winding road with just a few gene therapeutic drugs demonstrating clinical benefits in humans. The current state of gene therapy is that viral vector-mediated gene transfer shows the now long-awaited initial success for safe, and in some cases efficient, gene transfer in clinical trials...
2017: Medicine and Sport Science
https://www.readbyqxmd.com/read/28571016/next-generation-omics-approaches-in-the-fight-against-blood-doping
#6
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/28552947/relationship-of-mechanical-impact-magnitude-to-neurologic-dysfunction-severity-in-a-rat-traumatic-brain-injury-model
#7
Tsung-Hsun Hsieh, Jing-Wei Kang, Jing-Huei Lai, Ying-Zu Huang, Alexander Rotenberg, Kai-Yun Chen, Jia-Yi Wang, Shu-Yen Chan, Shih-Ching Chen, Yung-Hsiao Chiang, Chih-Wei Peng
OBJECTIVE: Traumatic brain injury (TBI) is a major brain injury type commonly caused by traffic accidents, falls, violence, or sports injuries. To obtain mechanistic insights about TBI, experimental animal models such as weight-drop-induced TBI in rats have been developed to mimic closed-head injury in humans. However, the relationship between the mechanical impact level and neurological severity following weight-drop-induced TBI remains uncertain. In this study, we comprehensively investigated the relationship between physical impact and graded severity at various weight-drop heights...
2017: PloS One
https://www.readbyqxmd.com/read/28541413/the-influence-of-the-apolipoprotein-e-apoe-gene-on-subacute-post-concussion-neurocognitive-performance-in-college-athletes
#8
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/28536601/geneticizing-ethnicity-and-diet-anti-doping-science-and-its-social-impact-in-the-age-of-post-genomics
#9
Jaehwan Hyun
While gene doping and other technological means of sport enhancement have become a topic of ethical debate, a major outcome from genomic research in sports is often linked to the regulation of doping. In particular, researchers within the field of anti-doping science, a regulatory science that aims to develop scientific solutions for regulating doped athletes, have conducted genomic research on anabolic-androgenic steroids. Genomic knowledge on anabolic-androgenic steroids, a knowledge base that has been produced to improve doping regulation, has caused the 'geneticization' of cultural objects such as ethnic identities and dietary habits...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28530157/muscle-secreted-factors-improve-anterior-cruciate-ligament-graft-healing-an-in-vitro-and-in-vivo-analysis
#10
Corina Adriana Ghebes, Nathalie Groen, Yau Chuk Cheuk, Sai Chuen Fu, Hugo Machado Fernandes, Daniel B F Saris
One of the ligaments most often damaged during sports-the anterior cruciate ligament (ACL)-has poor healing capacity. On damage, reconstructive surgery is performed to restore the mechanical stability of the knee and to reduce the inflammatory milieu otherwise present in the joint. A return to normal activities, however, takes between 9 and 12 months. Thus, strategies capable of improving ACL graft healing are needed. Embryonic development of tendon and ligament (T/L) is regulated by a crosstalk between different cell types...
July 5, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28523640/biomedical-risk-factors-of-achilles-tendinopathy-in-physically-active-people-a-systematic-review
#11
REVIEW
Maria Kozlovskaia, Nicole Vlahovich, Kevin J Ashton, David C Hughes
BACKGROUND: Achilles tendinopathy is the most prevalent tendon disorder in people engaged in running and jumping sports. Aetiology of Achilles tendinopathy is complex and requires comprehensive research of contributing risk factors. There is relatively little research focussing on potential biomedical risk factors for Achilles tendinopathy. The purpose of this systematic review is to identify studies and summarise current knowledge of biomedical risk factors of Achilles tendinopathy in physically active people...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28521375/a-genetic-marker-associated-with-shoulder-dislocation
#12
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/28491317/marathoning-with-myotonic-dystrophy-type-2-proximal-myotonic-myopathy-and-leukopenia
#13
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
OBJECTIVES: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS: Case report. RESULTS: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28444615/polygenic-study-of-endurance-associated-genetic-markers-ace-i-d-actn3-arg-r-577ter-x-ckmm-a-g-ncoi-and-enos-glu-g-298asp-t-in-male-gorkha-soldiers
#14
Seema Malhotra, Kiran Preet, Arvind Tomar, Shweta Rawat, Sayar Singh, Inderjeet Singh, L Robert Varte, Tirthankar Chatterjee, M S Pal, Soma Sarkar
BACKGROUND: Gorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when "Gorkha" is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T)...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28416894/letter-to-the-editor-a-genetic-based-algorithm-for-personalized-resistance-training
#15
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/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#16
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
June 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28385916/mild-aerobic-exercise-blocks-elastin-fiber-fragmentation-and-aortic-dilatation-in-a-mouse-model-of-marfan-syndrome-associated-aortic-aneurysm
#17
Christine P Gibson, Cory Nielsen, Ramona Alex, Kimbal Cooper, Michael Farney, Douglas Gaufin, Jason Z Cui, Cornelis van Breemen, Tom L Broderick, Johana Vallejo-Elias, Mitra Esfandiarei
Regular low impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above-average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (wheel-cage) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome...
April 6, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28349656/equine-performance-genes-and-the-future-of-doping-in-horseracing
#18
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
#19
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/28315876/angiotensin-converting-enzyme-ins-del-polymorphism-and-body-composition-the-intermediary-role-of-hydration-status
#20
Laura Bordoni, Valerio Napolioni, Francesca Marchegiani, Emilio Amadio, Rosita Gabbianelli
BACKGROUND: The well-known insertion/deletion polymorphism (rs4646994) of the angiotensin-converting enzyme (ACE) gene has been previously associated with obesity, blood flow, muscular strength, and ACE enzyme activity. Despite the relevant role of ACE in homeostasis, few data are currently available on the relationship between rs4646994 and hydration status. Thus, we tested the association between the ACE Ins/Del polymorphism, body composition, and hydration status in a young Italian population...
March 18, 2017: Journal of Nutrigenetics and Nutrigenomics
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