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Sports genetics

Fabian Sanchis-Gomar, Helios Pareja Galeano, Jose A Rodriguez-Marroyo, Jos J de Koning, Alejandro Lucia, Carl Foster
Despite some advances, how the millions of variations in the human genome influence athletic performance (especially in endurance events) remains largely unknown, and no single genetic test can really predict sports talent. However, there is experimental evidence coming from animal research that selecting for even a simple characteristic like 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 13, 2016: International Journal of Sports Physiology and Performance
P Ferro, R Ventura, C Pérez-Mañá, M Farré, J Segura
Since the appearance of recombinant human growth hormone (rhGH) in the 80's, its expansion and acquisition through the black market has increased, so the detection of its abuse continues to be a challenge at present. New biomarkers that are more reliable and sensitive, allowing a larger detection window, are still needed. In this line, Fibronectin 1 (FN1) has been proposed as potential genetic and protein biomarker of rhGH abuse in peripheral blood lymphocytes, serum and plasma. However, logistic problems associated with current blood collection in sports drug testing points towards potential new alternative matrices that could be good candidates to be evaluated...
October 7, 2016: Drug Testing and Analysis
Waseem Hindieh, Arnon Adler, Adaya Weissler-Snir, Dana Fourey, Sarah Harris, Harry Rakowski
Hypertrophic cardiomyopathy is a common genetic disorder with a prevalence of 1:500 in the general population. Amongst a varied spectrum of clinical presentations, the most feared complication of this cardiac disorder is sudden cardiac death. Although only a minority of patients with hypertrophic cardiomyopathy who suffer sudden cardiac death or resuscitated cardiac arrest do so during exercise, strenuous physical activity is regarded as an important trigger for these tragic outcomes. Furthermore, during exercise, patients with hypertrophic cardiomyopathy may develop augmentation of left ventricular outflow tract obstruction, myocardial ischemia, diastolic dysfunction and/or inappropriate vasodilation in non-exercising vascular beds...
September 20, 2016: Journal of Science and Medicine in Sport
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
G Rovere, B J Ducro, J A M van Arendonk, E Norberg, P Madsen
Sport performance in dressage and show jumping are two important traits in the breeding goals of many studbooks. To determine the optimum selection scheme for jumping and dressage, knowledge is needed on the genetic correlation between both disciplines and between traits measured early in life and performance in competition in each discipline. This study aimed to estimate genetic parameters to support decision-making on specialization of breeding horses for dressage and show jumping in Dutch warmblood horses...
September 27, 2016: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Here, we investigated the presence of neoangiogenesis in AKU synovium and healthy controls. Synovium from AKU patients, who had undergone total joint replacement or arthroscopy, or from healthy patients without any history of rheumatic diseases, who underwent surgical operation following sport trauma was subjected to hematoxylin and eosin staining...
November 2016: Journal of Inherited Metabolic Disease
Fernando Comba, Nicolás S Piuzzi, José Ignacio Oñativia, Gerardo Zanotti, Martín Buttaro, Francisco Piccaluga
BACKGROUND: Calcific deposits in tendon, muscles, and periarticular areas are very common. Heterotopic ossification of the rectus femoris (HORF) is a rare condition, and several theories exist regarding the etiopathogenesis, which appears to be multifactorial with traumatic, genetic, and local metabolic factors involved. Although HORF typically responds to nonoperative treatment, when this approach fails, endoscopic treatment is a minimally invasive technique to address the pathology...
September 2016: Orthopaedic Journal of Sports Medicine
Thomas Piper, Wilhelm Schänzer, Mario Thevis
Testosterone (T) misuse still represents a major problem in sports drug testing. Many strategies have been developed and applied to routine doping controls in recent years to enable both to identify suspicious samples in initial testing procedures and to confirm the exogenous origin of urinary T by means of carbon isotope ratio (CIR) determinations. Depending on the tested individual's genotype of UGT2B17, significantly different amounts of T are glucuronidated and excreted, which results in unaffected T/epitestosterone ratios after T misuse in those subjects with the deletion/deletion polymorphism (del/del)...
September 20, 2016: Drug Testing and Analysis
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
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
Cira R T di Gioia, Carla Giordano, Bruna Cerbelli, Annalinda Pisano, Elena Perli, Enrico De Dominicis, Barbara Poscolieri, Vincenzo Palmieri, Costantino Ciallella, Paolo Zeppilli, Giulia d'Amati
Nonischemic Left Ventricular Scar (NLVS) is a pattern of myocardial injury characterized by midventricular and/or subepicardial gadolinium hyper enhancement at cardiac magnetic resonance, in absence of significant coronary artery disease. We aimed to evaluate the prevalence of NLVS in juvenile sudden cardiac death and to ascertain its aetiology at autopsy. We examined 281 consecutive cases of sudden death of subjects aged 1 to 35 years of age. NLVS was defined as a thin, grey rim of subepicardial and/or midmyocardial scar in the left ventricular free wall and/or the septum, in absence of significant stenosis of coronary arteries...
August 25, 2016: Human Pathology
Eric P Ratliff, Ayeh Barekat, Marta M Lipinski, Kim D Finley
Drosophila models have been successfully used to identify many genetic components that affect neurodegenerative disorders. Recently, there has been a growing interest in identifying innate and environmental factors that influence the individual outcomes following traumatic brain injury (TBI). This includes both severe TBI and more subtle, mild TBI (mTBI), which is common in people playing contact sports. Autophagy, as a clearance pathway, exerts protective effects in multiple neurological disease models. In a recent publication, we highlighted the development of a novel repetitive mTBI system using Drosophila, which recapitulates several phenotypes associated with trauma in mammalian models...
August 25, 2016: Autophagy
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
Hansang Jung, Namju Lee, Sok Park
PURPOSE: The purpose of this study was to determine the interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency changes in combat sports athletes. METHODS: Six types of combat sports athletes (Judo, Taekwondo, boxing, kendo, wrestling, and Korean Ssi-reum) participated in the study. ATCN3 gene polymorphism and muscle imbalance in lower extremity were evaluated followed by analysis of differences of moment in hip, knee, and ankle joint during V-cut jumping and stop...
June 2016: Journal of Exercise Nutrition & Biochemistry
Xiaoen Huang, Fangfang Wang, Ratnesh Singh, James A Reinert, M C Engelke, Anthony D Genovesi, Ambika Chandra, Qingyi Yu
BACKGROUND: Zoysia matrella, widely used in lawns and sports fields, is of great economic and ecological value. Z. matrella is an allotetraploid species (2n = 4x = 40) in the genus zoysia under the subfamily Chloridoideae. Despite its ecological impacts and economic importance, the subfamily Chloridoideae has received little attention in genomics studies. As a result, limited genetic and genomic information are available for this subfamily, which have impeded progress in understanding evolutionary history of grasses in this important lineage...
2016: BMC Genomics
Colin N Moran, Yannis P Pitsiladis
Cyclists in the Tour de France are endurance specialists. Twin and family studies have shown that approximately 50% of the variance in a number of performance-related phenotypes (whether measured at baseline, i.e., natural talent, or in response to training) including those important to cycling can be explained by genetic variation. Research into the specific genetic variants that are responsible has identified over 200 genes containing common genetic variants involved in the genetic predisposition to physical performance...
August 6, 2016: Journal of Sports Sciences
Joyce F Benenson, Richard W Wrangham
The nature of ancestral human social structure and the circumstances in which men or women tend to be more cooperative are subjects of intense debate. The male warrior hypothesis proposes that success in intergroup contests has been vital in human evolution and that men therefore must engage in maximally effective intragroup cooperation [1-3]. Post-conflict affiliation between opponents is further proposed to facilitate future cooperation [4], which has been demonstrated in non-human primates [5] and humans [6]...
August 22, 2016: Current Biology: CB
Jackman C Eschenroeder, James H Roberts
The rock bass (Ambloplites rupestris) is a popular sport-fish native to the Mississippi and Great Lakes basins of North America. The species has been widely introduced outside its native range, including into Atlantic-slope streams of Virginia where it may hybridize with an imperiled, similar-looking congener, the Roanoke bass (Ambloplites cavifrons). In this study, we identified and evaluated novel molecular markers to facilitate identification of these species and study the extent of hybridization. Using molecular libraries developed from A...
October 2016: Molecular Biology Reports
Jana Zímová, Pavlína Zímová
Trichotillomania (TTM) is defined by the Diagnostics and Statistic Manual of Mental Disorders, 4th edition (DMS-IV) as hair loss from a patient`s repetitive self-pulling of hair. The disorder is included under anxiety disorders because it shares some obsessive-compulsive features. Patients have the tendency towards feelings of unattractiveness, body dissatisfaction, and low self-esteem (1,2). It is a major psychiatric problem, but many patients with this disorder first present to a dermatologist. An 11-year-old girl came to our department with a 2-month history of diffuse hair loss on the frontoparietal and parietotemporal area (Figure 1)...
June 2016: Acta Dermatovenerologica Croatica: ADC
Sigal Ben-Zaken, Yoav Meckel, Dan Nemet, Nitzan Dror, Alon Eliakim
The potential use genetic polymorphism, and in particularly polymorphism of hormone genes, as tool to predict athletic performance is currently very challenging. Recent studies suggest that single nucleotide polymorphisms in IGF-I and myostatin may be beneficial for endurance and short distance running, and may even be associated with elite performance. Polymorphism in IGF-I receptor may differentiate between the two edges of the endurance-power athletic performance running spectrum suggesting beneficial effects for endurance and prevent from success in power events...
June 2016: Pediatric Endocrinology Reviews: PER
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