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GENES AND SPORTS

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https://www.readbyqxmd.com/read/27900880/associations-of-nicotinamide-n-methyltransferase-gene-single-nucleotide-polymorphisms-with-sport-performance-and-relative-maximal-oxygen-uptake
#1
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
#2
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...
November 29, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27872178/childhood-activity-on-progression-in-limb-girdle-muscular-dystrophy-2i
#3
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
#4
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
https://www.readbyqxmd.com/read/27809906/modulating-effects-of-exercise-training-regimen-on-skeletal-muscle-properties-in-female-polo-ponies
#5
Metha Chanda, Ratchakrit Srikuea, Worakij Cherdchutam, Arthit Chairoungdua, Pawinee Piyachaturawat
BACKGROUND: The match play patterns in equestrian polo are unique and require specific training programs to ensure sport performance. The effect of commonly used exercise training regimens on the adaptation of skeletal muscle is unclear. The present study investigated the modulating effects of the classic training regimen, comprised of aerobic exercise training with increasing exercise intensities and varying duration combined with match play, on the properties of muscle in polo ponies...
November 4, 2016: BMC Veterinary Research
https://www.readbyqxmd.com/read/27752168/-magnetic-resonance-imaging-of-dystrophinopathy-that-mimics-adductor-enthesopathy
#6
Y M Zheng, W Z Li, Z X Wang, W Zhang, H Lv, J X Xiao, Y Yuan
OBJECTIVE: To report thigh muscle magnetic resonance imaging (MRI) tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor enthesopathy. METHODS: Four boys, who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the incidental findings of elevated serum creatine kinase levels, and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD)...
October 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27747845/actn3-r577x-polymorphism-is-not-associated-with-team-sport-athletic-status-in-italians
#7
Myosotis Massidda, Valeria Bachis, Laura Corrias, Francesco Piras, Marco Scorcu, Claudia Culigioni, Daniele Masala, Carla M Calò
BACKGROUND: The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes. METHODS: We compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy...
December 2015: Sports Medicine—Open
https://www.readbyqxmd.com/read/27736250/olympic-genes-on-the-podium
#8
Fabian Sanchis-Gomar, Helios Pareja-Galeano, Jose A Rodriguez-Marroyo, Jos J de Koning, Alejandro Lucia, Carl Foster
Despite some advances, it remains largely unknown how the millions of variations in the human genome influence athletic performance (especially in endurance events), and no single genetic test can really predict sports talent. However, there is experimental evidence from animal research that selecting for even a simple characteristic such as running ability can produce comparatively large and rapid changes in performance. That such selection has not been specifically documented in humans is more evidence of the limits of physiology-archeology than of the unlikelihood of selection for physical abilities...
October 2016: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/27706926/discordant-genotyping-results-using-dna-isolated-from-anti-doping-control-urine-samples
#9
Eva Choong, Jenny J Schulze, Magnus Ericsson, Anders Rane, Lena Ekström
The UGT2B17 gene deletion polymorphism is known to correlate to urinary concentration of testosterone-glucuronide and hence this genotype exerts a large impact on the testosterone/epitestosterone (T/E) ratio, a biomarker for testosterone doping. The objective of this study was to assess if DNA isolated from athletes' urine samples (n = 713) obtained in routine doping controls could be targeted for genotyping analysis for future integration in the athlete's passport. A control population (n = 21) including both urine and blood DNA was used for genotyping concordance test...
October 5, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27693050/circulating-mirna-as-fine-regulators-of-the-physiological-responses-to-physical-activity-pre-analytical-warnings-for-a-novel-class-of-biomarkers
#10
REVIEW
Giovanni Lombardi, Silvia Perego, Veronica Sansoni, Giuseppe Banfi
MicroRNAs are endogenous non-coding RNAs that post-transcriptionally regulate gene expression by specifically binding the target mRNA and by consequently inducing its degradation. miRNAs can be released into the circulation where they remain stable and they can be measured. Their changes reflect individual biologic adaptation to exposures to specific environmental conditions. As such, measurement of circulating microRNAs represents an opportunity to evaluate biologic changes associated with interventions such as exercise and diet...
December 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27691998/characterisation-of-equine-satellite-cell-transcriptomic-profile-response-to-%C3%AE-hydroxy-%C3%AE-methylbutyrate-hmb
#11
Katarzyna A Szcześniak, Anna Ciecierska, Piotr Ostaszewski, Tomasz Sadkowski
β-Hydroxy-β-methylbutyrate (HMB) is a popular ergogenic aid used by human athletes and as a supplement to sport horses, because of its ability to aid muscle recovery, improve performance and body composition. Recent findings suggest that HMB may stimulate satellite cells and affect expressions of genes regulating skeletal muscle cell growth. Despite the scientific data showing benefits of HMB supplementation in horses, no previous study has explained the mechanism of action of HMB in this species. The aim of this study was to reveal the molecular background of HMB action on equine skeletal muscle by investigating the transcriptomic profile changes induced by HMB in equine satellite cells in vitro...
October 2016: British Journal of Nutrition
https://www.readbyqxmd.com/read/27631191/human-genetic-variation-sport-and-exercise-medicine-and-achilles-tendinopathy-role-for-angiogenesis-associated-genes
#12
Masouda Rahim, Louis Y El Khoury, Stuart M Raleigh, William J Ribbans, Michael Posthumus, Malcolm Collins, Alison V September
Sport and Exercise Medicine is one of the important subspecialties of 21st century healthcare contributing to improving the physical function, health, and vitality of populations while reducing the prevalence of lifestyle-related diseases. Moreover, sport and exercise are associated with injuries such as Achilles tendinopathy, which is a common tendon injury. The angiogenesis-associated signaling pathway plays a key role in extracellular matrix remodeling, with increased levels of angiogenic cytokines reported after cyclic stretching of tendon fibroblasts...
September 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27617087/arrhythmogenic-cardiomyopathy-electrical-and-structural-phenotypes
#13
Deniz Akdis, Corinna Brunckhorst, Firat Duru, Ardan M Saguner
This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes...
August 2016: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/27605219/macrophage-depletion-impairs-skeletal-muscle-regeneration-the-roles-of-pro-fibrotic-factors-inflammation-and-oxidative-stress
#14
Weihua Xiao, Yu Liu, Peijie Chen
Muscle contusion is one of the most common muscle injuries in sports medicine. Macrophages play complex roles in the regeneration of skeletal muscle. However, the roles of macrophages, especially the mechanisms involved, in the regeneration of muscle contusion are still not fully understood. We hypothesize that the depletion of macrophages impairs skeletal muscle regeneration and that pro-fibrotic factors, inflammation, and oxidative stress may be involved in the process. To test these hypotheses, we constructed a muscle contusion injury and a macrophage depletion model and followed it up with morphological and gene expression analyses...
December 2016: Inflammation
https://www.readbyqxmd.com/read/27601084/a-new-autosomal-dominant-eye-and-lung-syndrome-linked-to-mutations-in-timp3-gene
#15
Isabelle Meunier, Béatrice Bocquet, Gilles Labesse, Christina Zeitz, Sabine Defoort-Dhellemmes, Annie Lacroux, Martine Mauget-Faysse, Isabelle Drumare, Anne-Sophie Gamez, Cyril Mathieu, Virginie Marquette, Lola Sagot, Claire-Marie Dhaenens, Carl Arndt, Patrick Carroll, Martine Remy-Jardin, Salomon Yves Cohen, José-Alain Sahel, Bernard Puech, Isabelle Audo, Sarah Mrejen, Christian P Hamel
To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27581206/purple-foliage-coloration-in-tea-camellia-sinensis-l-arises-from-activation-of-the-r2r3-myb-transcription-factor-csan1
#16
Binmei Sun, Zhangsheng Zhu, Panrong Cao, Hao Chen, Changming Chen, Xin Zhou, Yanhui Mao, Jianjun Lei, Yanpin Jiang, Wei Meng, Yingxi Wang, Shaoqun Liu
Purple foliage always appears in Camellia sinensis families; however, the transcriptional regulation of anthocyanin biosynthesis is unknown. The tea bud sport cultivar 'Zijuan' confers an abnormal pattern of anthocyanin accumulation, resulting in a mutant phenotype that has a striking purple color in young foliage and in the stem. In this study, we aimed to unravel the underlying molecular mechanism of anthocyanin biosynthetic regulation in C. sinensis. Our results revealed that activation of the R2R3-MYB transcription factor (TF) anthocyanin1 (CsAN1) specifically upregulated the bHLH TF CsGL3 and anthocyanin late biosynthetic genes (LBGs) to confer ectopic accumulation of pigment in purple tea...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27579626/regulation-of-adipogenesis-through-differential-modulation-of-ros-and-kinase-signaling-pathways-by-3-4-dihydroxyflavone-treatment
#17
Jihae Han, Hye Yeon Choi, Ahmed Abdal Dayem, Kyeongseok Kim, Gwangmo Yang, Jihye Won, Sun Hee Do, Jin-Hoi Kim, Kyu-Shik Jeong, Ssang-Goo Cho
Studies on adipogenesis may be important for regulating human and/or animal obesity, which causes several complications such as, type II diabetes, hypertension, and cardiovascular disease, thus giving rise to increased economic burden in many countries. Previous reports revealed that various flavonoids have anti-apoptotic, antioxidant, and cell differentiation-regulating activities with a number of physiological benefits, including protection from cardiovascular disease, cancers, and oxidative stress. As we found that the hydroxylation patterns of the flavonoid B ring are known to play a critical role in their function, we screened several flavonoids containing different numbers and positions of OH substitutions in B ring for their modulatory property on adipogenesis...
August 31, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27564864/epigenome-editing-of-potato-by-grafting-using-transgenic-tobacco-as-sirna-donor
#18
Atsushi Kasai, Songling Bai, Hatsune Hojo, Takeo Harada
In plants, it is possible to induce heritable transcriptional gene silencing (TGS) via RNA-directed DNA methylation (RdDM) using artificially synthesized small RNA (siRNA) homologous to the 5'-flanking region of the target gene. As the siRNA signal with a specific RNA determinant moves through plasmodesmata and sieve elements, we attempted to induce TGS of a transgene and an endogenous gene of potato (Solanum tuberosum) rootstock by grafting using siRNA produced in a tobacco (Nicotiana benthamiana) scion. Our results provide evidence that this system can induce TGS of target genes in tubers formed on potato rootstock...
2016: PloS One
https://www.readbyqxmd.com/read/27516875/genetic-differentiation-in-red-bellied-piranha-populations-pygocentrus-nattereri-kner-1858-from-the-solim%C3%A3%C2%B5es-amazonas-river
#19
Carlos Henrique Dos A Dos Santos, Carolina S de Sá Leitão, Maria de N Paula-Silva, Vera Maria F Almeida-Val
Red-bellied piranhas (Pygocentrus nattereri) are widely caught with different intensities throughout the region of Solimões-Amazonas River by local fishermen. Thus, the management of this resource is performed in the absence of any information on its genetic stock. P. nattereri is a voracious predator and widely distributed in the Neotropical region, and it is found in other regions of American continent. However, information about genetic variability and structure of wild populations of red-bellied piranha is unavailable...
June 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/27508152/characterization-of-the-metabolic-effect-of-%C3%AE-alanine-on-markers-of-oxidative-metabolism-and-mitochondrial-biogenesis-in-skeletal-muscle
#20
Jamie K Schnuck, Kyle L Sunderland, Matthew R Kuennen, Roger A Vaughan
PURPOSE: β-alanine is a common component of numerous sports supplements purported to improve athletic performance through enhanced carnosine biosynthesis and related intracellular buffering. To date, the effects of β-alanine on oxidative metabolism remain largely unexplored. This work investigated the effects of β-alanine on the expression of proteins which regulate cellular energetics. METHODS: C2C12 myocytes were cultured and differentiated under standard conditions followed by treatment with either β-alanine or isonitrogenous non-metabolizable control D-alanine at 800μM for 24 hours...
June 2016: Journal of Exercise Nutrition & Biochemistry
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