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Mutations in BCS1L, an assembly factor that facilitates the insertion of the catalytic Rieske Iron-Sulfur subunit into respiratory chain complex III, result in a wide variety of clinical phenotypes that range from the relatively mild Björnstad syndrome to the severe GRACILE syndrome. To better understand the pathophysiological consequences of such(More)
The purpose of this investigation was to examine the effects of chronic and acute exercise on the main components involved in excitation-contraction coupling and relaxation in rat heart. Sixty male Wistar rats were divided into a sedentary (S) and three 12-wk treadmill-trained groups (T-1, moderate intensity; T-2, high intensity; T-3, interval running).(More)
The Lys(K)153Arg(R) polymorphism in exon 2 (rs1805086, 2379 A>G replacement) of the myostatin (MSTN) gene is a candidate to influence skeletal muscle phenotypes. We examined the association between the MSTN K153R polymorphism and 'explosive' leg power, assessed during sprint (30 m) and stationary jumping tests [squat (SJ) and counter-movement jumps (CMJ)](More)
OBJECTIVE This study reports acute exercise responses in a large (N = 46) series of patients with McArdle disease and responses to exercise training in a smaller (n = 9) set of patients. DESIGN Patients were studied during both incremental and steady-state cycle ergometer exercise, using cardiopulmonary testing, and the patients were compared with age-(More)
BACKGROUND Complex I (CI) deficiency is the most frequent cause of OXPHOS disorders. Recent studies have shown increases in reactive oxygen species (ROS) production and mitochondrial network disturbances in patients' fibroblasts harbouring mutations in CI subunits. OBJECTIVES The present work evaluates the impact of mutations in the NDUFA1 and NDUFV1(More)
AIM The purpose of this study was to determine the effects of both a short (12 weeks) and a long-term (24 weeks) endurance treadmill-training programme on the levels of oxidative stress markers, the activity of the enzymatic antioxidants, and the content of the 72 kDa heat shock protein (HSP72) in rat myocardium. METHODS Thirty male Wistar rats were(More)
Aerobic ATP generation by the mitochondrial respiratory oxidative phosphorylation system (OXPHOS) is a vital metabolic process for endurance exercise. Notably, mitochondrial DNA (mtDNA) codifies 13 of the 83 polypeptides implied in the respiratory chain. As such, there is a strong rationale for identifying an association between mtDNA variants and "aerobic"(More)
PURPOSE The purpose of this study was to analyze the short-term effects of a marathon race (Madrid Marathon) on both markers of cardiac damage and echocardiographic parameters in a group of 22 runners (17 male and 5 female; 34 +/- 5 yr; VO2max: 55.7 +/- 9.1 mL x kg(-1) x min(-1) with a wide range of fitness levels. METHODS Venous blood samples were(More)
The present study was conducted to investigate the effects of long-term exercise training on the main components involved in excitation-contraction coupling and relaxation in rat myocardium. Twenty male Wistar rats were divided into sedentary (S) and treadmill-trained (T) groups. Group T was trained for 24 weeks, 5 days/week (25 m/min, 45–60 min, 0%(More)
The purpose of this investigation was to analyze the short-term effects of marathon running on serum levels of cardiac markers in a group of master runners (> 60 yrs). Ten marathoners (9 male and 1 female; 63+/-4 yrs) were enrolled in the study. All of them completed the Madrid Marathon (1998). Venous blood was drawn from each subject three times during the(More)