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GENES AND SPORTS

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https://www.readbyqxmd.com/read/28239025/the-role-of-single-nucleotide-variants-of-the-energy-metabolism-linked-genes-sirt3-ppargc1a-and-apoe-in-amyotrophic-lateral-sclerosis-risk
#1
Diego Albani, Elisabetta Pupillo, Elisa Bianchi, Armando Chierchia, Rosalba Martines, Gianluigi Forloni, Ettore Beghi
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease, possibly with contributions from genetics and lifestyle. We examined variants in genes relevant to energy metabolism and physical activity in a case-control association study, with the aim of assessing genetics and physical activity as contributors to ALS risk. A well-characterized sample of Italian ALS patients (101) and controls (101) from the EURALS Consortium underwent a questionnaire interview on demographic, physical and other lifestyle habits, and venipuncture for DNA extraction...
February 24, 2017: Genes & Genetic Systems
https://www.readbyqxmd.com/read/28230530/developing-a-multi-component-immune-model-for-evaluating-the-risk-of-respiratory-illness-in-athletes
#2
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
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#3
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
: Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
February 20, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28210805/transcutaneous-carbon-dioxide-application-accelerates-muscle-injury-repair-in-rat-models
#4
Shiho Akahane, Yoshitada Sakai, Takeshi Ueha, Hanako Nishimoto, Miho Inoue, Takahiro Niikura, Ryosuke Kuroda
PURPOSE: Skeletal muscle injuries are commonly observed in sports and traumatology medicine. Previously, we demonstrated that transcutaneous application of carbon dioxide (CO2) to lower limbs increased the number of muscle mitochondria and promoted muscle endurance. Therefore, we aimed to investigate whether transcutaneous CO2 application could enhance recovery from muscle injury. METHODS: Tibialis anterior muscle damage was induced in 27 Sprague Dawley rats via intramuscular injection of bupivacaine...
February 16, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28195972/individual-and-combined-influence-of-ace-and-actn3-genes-on-muscle-phenotypes-in-polish-athletes
#5
Joanna Orysiak, Joanna Mazur-Różycka, Krzysztof Busko, Jan Gajewski, Beata Szczepanska, Jadwiga Malczewska-Lenczowska
The aim of this study was to examine the association between ACE and ACTN3 genes, independently or in combination, and muscle strength and power in male and female athletes. The study involved 398 young male (n=266) and female (n=132) athletes representing various sport disciplines (ice hockey, canoeing, swimming, volleyball). All were Caucasians. The following measurements were taken: height of jump and mechanical power in countermovement jump (CMJ) and spike jump (SPJ), and muscle strength of 10 muscle groups (flexors and extensors of the elbow, shoulder, hip, knee and trunk)...
February 8, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28184307/low-back-pain-and-foki-rs2228570-polymorphism-of-vitamin-d-receptor-in-athletes
#6
Sabina Cauci, Francesca Migliozzi, Carlo Simone Trombetta, Ilaria Venuto, Paola Saccheri, Luciana Travan, Giovanni Chiriacò
BACKGROUND: Low back pain (LBP) is common in athletes. LBP can be detrimental to athletic performance and health. Factors predisposing to LBP in athletes remain elusive and require further studies. We investigated whether carriage of a specific genotype and/or allele of vitamin D receptor gene (VDR) FokI polymorphism (rs2228570) was a risk factor for LBP in athletes of different sports disciplines. METHODS: This genotype/phenotype association case-control study included 60 Italian athletes (25 females and 35 males; mean age 33...
2017: BMC Sports Science, Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28176368/pharmacological-inhibition-of-myostatin-protects-against-skeletal-muscle-atrophy-and-weakness-after-anterior-cruciate-ligament-tear
#7
Caroline N W Wurtzel, Jonathan P Gumucio, Jeremy A Grekin, Roger K Khouri, Carol S Davis, Alan J Russell, Asheesh Bedi, Christopher L Mendias
Anterior cruciate ligament (ACL) tears are among the most frequent knee injuries in sports medicine, with tear rates in the US up to 250,000 per year. Many patients who suffer from ACL tears have persistent atrophy and weakness even after considerable rehabilitation. Myostatin is a cytokine that directly induces muscle atrophy, and previous studies rodent models and patients have demonstrated an upregulation of myostatin after ACL tear. Using a preclinical rat model, our objective was to determine if the use of a bioneutralizing antibody against myostatin could prevent muscle atrophy and weakness after ACL tear...
February 8, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28129848/using-the-zebrafish-to-understand-tendon-development-and-repair
#8
J W Chen, J L Galloway
Tendons are important components of our musculoskeletal system. Injuries to these tissues are very common, resulting from occupational-related injuries, sports-related trauma, and age-related degeneration. Unfortunately, there are few treatment options, and current therapies rarely restore injured tendons to their original function. An improved understanding of the pathways regulating their development and repair would have significant impact in stimulating the formulation of regenerative-based approaches for tendon injury...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28103427/repeated-maximal-intensity-hypoxic-exercise-superimposed-to-hypoxic-residence-boosts-skeletal-muscle-transcriptional-responses-in-elite-team-sport-athletes
#9
Franck Brocherie, Grégoire P Millet, Gommaar D'Hulst, Ruud Van Thienen, Louise Deldicque, Olivier Girard
AIM: To determine whether repeated maximal-intensity hypoxic exercise induces larger beneficial adaptations on the hypoxia inducible factor-1α pathway and its target genes than similar normoxic exercise, when combined with chronic hypoxic exposure. METHODS: Lowland elite male team-sport athletes underwent 14 days of passive normobaric hypoxic exposure (≥14 h.day(-1) at Fi O2 14.5-14.2%) with the addition of six maximal-intensity exercise sessions either in normobaric hypoxia (Fi O2 ~14...
January 19, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28074345/the-beneficial-effects-of-physical-activity-is-it-down-to-your-genes-a-systematic-review-and-meta-analysis-of-twin-and-family-studies
#10
REVIEW
J R Zadro, D Shirley, T B Andrade, K J Scurrah, A Bauman, P H Ferreira
BACKGROUND: There is evidence for considerable heterogeneity in the responsiveness to regular physical activity (PA) which might reflect the influence of genetic factors. The aim of this systematic review was to assess whether the response to a PA intervention for measures of body composition and cardiorespiratory fitness is (i) correlated within twin pairs and/or families and (ii) more correlated in monozygotic twins (MZ) compared to dizygotic twins (DZ), which would be consistent with genetic effects...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28039429/limited-potential-of-genetic-predisposition-scores-to-predict-muscle-mass-and-strength-performance-in-flemish-caucasians-between-19-73-years-of-age
#11
Ruben Charlier, Maarten Caspers, Sara Knaeps, Evelien Mertens, Diether Lambrechts, Johan Lefevre, Martine Thomis
Since both muscle mass and strength performance are polygenic in nature, the current study compared four Genetic Predisposition Scores (GPS) in their ability to predict these phenotypes. Data were gathered within the framework of the first generation Flemish Policy Research Centre 'Sport, Physical Activity and Health' (2002-2004). Results are based on muscle characteristics data of 565 Flemish Caucasians (19-73 yr, 365 men). Skeletal muscle mass (SMM) was determined using bioelectrical impedance. The Biodex dynamometer was used to measure isometric (PTstatic120°) and isokinetic strength (PTdynamic60° and PTdynamic240°), ballistic movement speed (S20%) and muscular endurance (Work) of the knee extensors...
December 30, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28033318/a-point-mutation-in-a-lincrna-upstream-of-gdnf-is-associated-to-a-canine-insensitivity-to-pain-a-spontaneous-model-for-human-sensory-neuropathies
#12
Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact. Through a Genome Wide Association Study (GWAS) with 24 affected and 30 unaffected sporting dogs using the Canine HD 170K SNP array (Illumina), we identified a 1...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27991836/correlations-between-col2a-and-aggrecan-genetic-polymorphisms-and-the-risk-and-clinicopathological-features-of-intervertebral-disc-degeneration-in-a-chinese-han-population-a-case-control-study
#13
Yu Deng, Xin-Ti Tan, Qiang Wu, Xin Wang
OBJECTIVES: This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population. MATERIALS AND METHODS: Data from 295 IVDD patients (case group) and 324 healthy volunteers (control group) were collected between January 2012 and December 2014...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27951720/-involvement-of-piwi-interacting-rnas-in-cancerogenesis-via-the-regulation-of-gene-expression
#14
S Rybecká, K Štítkovcová, P Vychytilová-Faltejsková, O Slabý
BACKGROUND: In the past few years, a number of studies have suggested that small non-coding RNAs could be promising diagnostic, prognostic and predictive biomarkers in oncology. Recently, small RNAs interacting with PIWI proteins (piRNAs) have been described. These small RNAs regulate gene expression at transcriptional and post-transcriptional levels; however, they appear to be specifically involved in silencing the transposable elements LINE and SINE and are thus considered to contribute to genomic stability...
2016: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/27928207/the-agt-gene-m235t-polymorphism-and-response-of-power-related-variables-to-aerobic-training
#15
Zarębska Aleksandra, Jastrzębski Zbigniew, Moska Waldemar, Leońska-Duniec Agata, Kaczmarczyk Mariusz, Sawczuk Marek, Maciejewska-Skrendo Agnieszka, Żmijewski Piotr, Ficek Krzysztof, Trybek Grzegorz, Lulińska-Kuklik Ewelina, Ekaterina A Semenova, Ildus I Ahmetov, Cięszczyk Paweł
The C allele of the M235T (rs699) polymorphism of the AGT gene correlates with higher levels of angiotensin II and has been associated with power and strength sport performance. The aim of the study was to investigate whether or not selected power-related variables and their response to a 12-week program of aerobic dance training are modulated by the AGT M235T genotype in healthy participants. Two hundred and one Polish Caucasian women aged 21 ± 1 years met the inclusion criteria and were included in the study...
December 2016: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/27928199/association-of-anxiety-related-polymorphisms-with-sports-performance-in-chilean-long-distance-triathletes-a-pilot-study
#16
Jorge A Sanhueza, Tomás Zambrano, Carlos Bahamondes-Avila, Luis A Salazar
Different factors affecting athletic performance are well established: intensity and type of training, anthropometric characteristics as well as an important psychological component. However, the contribution of the genetic background has been less investigated. The aim of the present study was to investigate the influence of polymorphisms within genes associated with stress and anxiety (5HTT, CRH2R, ACE, NK1R, 5HT1AR and CRF-BP) on the physical capability and sports performance in triathletes. One hundred and ninety two (192) unrelated Chilean triathletes who participated in the 2014 70...
December 2016: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/27900880/associations-of-nicotinamide-n-methyltransferase-gene-single-nucleotide-polymorphisms-with-sport-performance-and-relative-maximal-oxygen-uptake
#17
Jiang-Hua Li, Wei Chen, Xiao-Juan Zhu, Ya-Jun Lin, Li-Qiang Qiu, Can-Xin Cai, Ya-Hui Wang, Qun Xiong, Fei Chen, Li-Hui Chen
To observe the associations between single nucleotide polymorphisms (SNPs) of nicotinamide N-methyltransferase (NNMT) gene and sport performance and to analyse genotype associations of the associated SNPs with sport performance and relative maximal oxygen uptake ([Formula: see text]). Participants were selected from 685 Chinese Han male college students. The completion times of a 1000-m run and a 50-m run were used to reflect sport performance, respectively. Nineteen tagSNPs were genotyped with Polymerase chain reaction-ligase detection reaction...
November 30, 2016: Journal of Sports Sciences
https://www.readbyqxmd.com/read/27899345/ethics-of-genetic-testing-and-research-in-sport-a-position-statement-from-the-australian-institute-of-sport
#18
Nicole Vlahovich, Peter A Fricker, Matthew A Brown, David Hughes
As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process...
January 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27872178/childhood-activity-on-progression-in-limb-girdle-muscular-dystrophy-2i
#19
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Julia A Collison, M Bridget Zimmerman, Katherine D Mathews
Limb girdle muscular dystrophy 2I is a slowly progressive muscular dystrophy due to mutations in the Fukutin-related protein (FKRP) gene. Clinicians are frequently asked if physical activity is harmful for pediatric patients with limb girdle muscular dystrophy 2I. The primary objective of this study was to determine if there is a relationship between self-reported childhood activity level and motor function and respiratory function in older children and adults with limb girdle muscular dystrophy 2I. We compared retrospective self-reported middle school activity level and sport participation with age at onset of weakness, 10-meter walk test, and forced vital capacity later in life in 41 participants with FKRP mutations...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27847097/associations-of-caspase-3-gene-polymorphism-with-lumbar-disc-herniation
#20
Yi Fang, Jun Qiu, Zong-Bin Jiang, Sheng-Rong Xu, Zeng-Hua Zhou, Rui-Lin He
To investigate Caspase-3 gene polymorphisms (rs4647693 G/A, rs4647610 A/G, and rs12108497 T/C) and susceptibility to lumbar intervertebral disc herniation (LDH). The genotype frequency distributions of the polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism in 107 LDH patients (case group) and 121 healthy individuals (control group). SHEsis software was used to conduct gene linkage disequilibrium and haplotype analysis. Regression analysis was used to analyze possible risk factors for LDH...
November 2016: Kaohsiung Journal of Medical Sciences
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