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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
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
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
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
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...
September 27, 2016: Clinical Biochemistry
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
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
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
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...
September 7, 2016: Inflammation
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
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
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
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
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
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
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
K A Szcześniak, A Ciecierska, P Ostaszewski, T Sadkowski
BACKGROUND: Adult skeletal muscle myogenesis depends on the activation of satellite cells that have the potential to differentiate into new fibers. Gamma-oryzanol (GO), a commercially available nutriactive phytochemical, has gained global interest on account of its muscle-building and regenerating effects. Here, we investigated GO for its potential influence on myogenesis, using equine satellite cell culture model, since the horse is a unique animal, bred and exercised for competitive sport...
2016: Genes & Nutrition
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
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