McArdle disease: a unique study model in sports medicine

McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. Because patients are unable to obtain energy from their muscle glycogen stores, this disease provides an interesting model of study for exercise physiologists, allowing insight to be gained into the understanding of glycogen-dependent muscle functions. Of special interest in the field of muscle physiology and sports medicine are also some specific (if not unique) characteristics of this disorder, such as the so-called 'second wind' phenomenon, the frequent exercise-induced rhabdomyolysis and myoglobinuria episodes suffered by patients (with muscle damage also occurring under basal conditions), or the early appearance of fatigue and contractures, among others. In this article we review the main pathophysiological features of this disorder leading to exercise intolerance as well as the currently available therapeutic possibilities.

Muscle signaling in exercise intolerance: Insights from the McArdle mouse model

We recently generated a knock-in mouse model (PYGM p.R50X/p.R50X) of McArdle disease (myophosphorylase deficiency). One mechanistic approach to unveil the molecular alterations caused by myophosphorylase deficiency, which is arguably the paradigm of 'exercise intolerance', is to compare the skeletal-muscle tissue of McArdle, heterozygous, and healthy (wild type (wt)) mice. We analyzed in quadriceps muscle of p.R50X/p.R50X (n=4), p.R50X/wt (n=6) and wt/wt mice (n=5) (all male, 8 wk-old) molecular markers of energy-sensing pathways, oxidative phosphorylation (OXPHOS) and autophagy/proteasome systems, oxidative damage and sarcoplamic reticulum (SR) Ca handling. We found a significant group effect for total AMPK (tAMPK) and ratio of phosphorylated (pAMPK)/tAMPK (P=0.012 and 0.033), with higher mean values in p.R50X/p.R50X mice vs. the other two groups. The absence of massive accumulation of ubiquitinated proteins, autophagosomes or lysosomes in p.R50X/p.R50X mice suggested no major alterations in autophagy/proteasome systems. Citrate synthase activity was lower in p.R50X/p.R50X mice vs. the other two groups (P=0.036) but no statistical effect existed for respiratory chain complexes. We found higher levels of 4-hydroxy-2-nonenal-modified proteins in p.R50X/p.R50X and p.R50X/wt mice compared with the wt/wt group (P=0.011). Sarco(endo)plasmic reticulum ATPase 1 (SERCA1) levels detected at 110kDa tended to be higher in p.R50X/p.R50X and p.R50X/wt mice compared with wt/wt animals (P=0.076), but their enzyme activity was normal. We also found an accumulation of phosphorylated SERCA1 in p.R50X/p.R50X animals. Myophosphorylase deficiency causes alterations in sensory energetic pathways together with some evidence of oxidative damage and alterations in Ca handling but with no major alterations in OXPHOS capacity or autophagy/ubiquitination pathways, which suggests that the muscle tissue of patients is likely to adapt overall favorably to exercise training interventions.

Exercise intervention in pediatric patients with solid tumors: The PAPEC trial

The randomized controlled trial ‘Physical Activity in Pediatric Cancer’ (PAPEC) determined the effects of an in-hospital exercise intervention combining aerobic and muscle strength training on pediatric cancer patients with solid tumors undergoing neoadjuvant chemotherapy. Methods. Participants were allocated to an exercise (n=24, 17 boys; mean±SEM age 10±1y) or control group (n=25, 18 boys; 11±1y). Training included three sessions/week for 19±2 weeks. Participants were assessed at treatment initiation, termination, and two months after end-treatment. The primary endpoint was muscle strength (as assessed by upper and lower-body five-repetition-maximum (5RM) tests). Secondary endpoints included cardiorespiratory fitness, functional capacity during daily life activities, physical activity, body mass and body mass index, and quality of life. Results. Most sessions were performed in the hospital’s gymnasium. Adherence to the program averaged 68±4% and no major adverse events or health issues were noted. A significant interaction (group*time) effect was found for all 5RM tests. Performance significantly increased after training (leg press: 40% (95% CI=15–41 kg); bench press: 24% (95% CI=6–14 kg); lateral row 25% (95%CI=6–15 kg)), whereas an opposite trend was found in controls. Two-month post values tended to be higher than baseline for leg (P=0.017) and bench press (P=0.014). In contrast, no significant interaction effect was found for any of the secondary endpoints. Conclusion. An in-hospital exercise program for pediatric cancer patients with solid tumors undergoing neoadjuvant treatment increases muscle strength despite the aggressiveness of such therapy. Key words: Cancer, exercise, muscle strength, fitness, quality of life.

Does high intensity squatting elicit post activation potentiation in the squat?

The phenomenon post activation potentiation (PAP) can be defined as an increase in muscle performance following a heavy contraction of a movement that utilizes the same muscle group (i.e. improved 20m sprint following a high intensity squat). However, research has yet to examine if heavy squats elicit PAP on the squat itself. Further, past studies have not yet analyzed if PAP is elicited at a moderate intensity (i.e. 60% one-repetition maximum-1RM).

A test of basic psychological needs theory in young soccer players: Time-lagged design at the individual and team levels

Within the framework of basic psychological needs theory (Deci & Ryan, 2000), multilevel structural equation modeling (MSEM) with a time-lagged design was used to test a mediation model examining the relationship between perceptions of coaches’ interpersonal styles (autonomy supportive and controlling), athletes’ basic psychological needs (satisfaction and thwarting), and indicators of well-being (subjective vitality) and ill-being (burnout), estimating separately between and within effects. The participants were 597 Spanish male soccer players aged between 11 and 14 years (M = 12.57, SD = 0.54) from 40 teams who completed a questionnaire package at two time points in a competitive season. Results revealed that at the individual level, athletes’ perceptions of autonomy support positively predicted athletes’ need satisfaction (autonomy, competence, and relatedness), whereas athletes’ perceptions of controlling style positively predicted athletes’ need thwarting (autonomy, competence, and relatedness). In turn, all three athletes’ need satisfaction dimensions predicted athletes’ subjective vitality and burnout (positively and negatively, respectively), whereas competence thwarting negatively predicted subjective vitality and competence and relatedness positively predicted burnout. At the team level, team perceptions of autonomy supportive style positively predicted team autonomy and relatedness satisfaction. Mediation effects only appeared at the individual level.

La trayectoria deportiva hacia el rendimiento en los deportes colectivos

¿Cómo es la trayectoria seguida por un jugador de fútbol desde que empieza a dar sus primeros pasos con el balón hasta que alcanza el rendimiento que le permita competir en la liga profesional de fútbol?, ¿cómo ocurre en el baloncesto o en el balonmano? Son muchos los factores que influirán sin duda alguna en dicho proceso. Entre dichos factores, en los últimos años, se ha considerado de forma detenida la influencia de la “practica deliberada” en el desarrollo del deportista. Sin embargo, son varios los autores y estudios que explican que no solo influye dicha practica, sino que también es muy importante la influencia del “juego deliberado”, bien en el mismo deporte, bien en otras especialidades deportivas, y que ambos tipos de practica son compatibles formando un continuum en el tiempo. Este artículo tiene como objetivo presentar el estado de la arte en torno a este debate, en el ámbito de los deportes colectivos, analizando si en los deportes colectivos los deportistas se especializan al principio en un solo deporte o bien si practican varias disciplinas deportivas para finalmente dedicarse exclusivamente a un deporte. Los resultados apuntan a que no existe un único camino en el desarrollo del deportista, y que razones de carácter social y cultural son las que realmente condicionan dicho proceso