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GENES AND SPORTS

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https://www.readbyqxmd.com/read/28416894/letter-to-the-editor-a-genetic-based-algorithm-for-personalized-resistance-training
#1
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
#2
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...
April 13, 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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28261436/orthopedic-manifestations-of-type-i-camurati-engelmann-disease
#7
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho
BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course...
March 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/28261247/selection-of-candidate-reference-genes-for-gene-expression-analysis-in-kentucky-bluegrass-poa-pratensis-l-under-abiotic-stress
#8
Kuiju Niu, Yi Shi, Huiling Ma
Kentucky bluegrass (Poa pratensis L.) belong to Gramineae and is widely used in lawns, golf courses, landscapes, and sport fields as a prominent cool-season grass. Gene expression patterns during different stages of plant development can provide clues toward the understanding of its biological functions. The selection and validation of reference genes are the first steps in any real-time quantitative PCR gene expression study. Therefore, suitable reference genes are necessary for obtaining reliable results in real-time quantitative PCR analyses of Kentucky bluegrass...
2017: Frontiers in Plant Science
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
#9
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
#10
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
#11
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...
January 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
#12
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
#13
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
#14
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
#15
Caroline Nw Wurtzel, Jonathan P Gumucio, Jeremy A Grekin, Roger K Khouri, 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
#16
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
#17
F Brocherie, G P Millet, G D'Hulst, R Van Thienen, L Deldicque, O 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 inspired oxygen fraction (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
#18
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
#19
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
#20
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
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