Exercise intolerance is a prominent symptom in patients with mitochondrial myopathy (MM), but it still unsettled whether exercise training safe and beneficial for MM. To address this, we studied the effect of 12 weeks cycle on capacity, quality life underlying molecular cellular events five single large-scale deletions, one microdeletion 14 point mutations DNA (mtDNA), 13 healthy subjects. Each session lasted 30 min, was performed at an intensity 70% VO2max (maximal oxygen uptake). subject...

Studies in a dystrophinopathy model (the mdx mouse) suggest that exercise training may be deleterious for muscle integrity, but has never been studied detail humans with defects of dystrophin. We the effect endurance on conditioning patients dystrophinopathy, Becker muscular dystrophy (BMD). Eleven BMD and seven matched, healthy subjects cycled 50, 30 min sessions at 65% their maximal oxygen uptake (VO2max) over 12 weeks, six continued cycling 1 year. VO2max, biopsies, echocardiography,...

The muscle pump and vasodilatory mechanims are thought to play important roles in increasing maintaining perfusion cardiac output during exercise, but their actual contributions remain uncertain. To evaluate the role of skeletal vasodilatation on cardiovascular function we determined leg systemic haemodynamic responses healthy men (1) incremental one‐legged knee‐extensor (2) step‐wise femoral artery ATP infusion at rest, (3) passive exercise ( n = 10), (4) vein or 6), (5) cyclic thigh...

We studied the effect of aerobic training on conditioning in patients with limb-girdle muscular dystrophy type 2I (LGMD2I). Nine LGMD2I cycled fifty 30-minute sessions at 65% their maximal oxygen uptake over 12 weeks. Training significantly improved work capacity, paralleled by self-reported improvements. Creatine kinase levels did not increase significantly, and muscle morphology was unaffected. Moderate-intensity endurance is a safe method to exercise performance daily function LGMD2I.

Abstract The purpose of this study was to investigate the correlation between level mutated mitochondrial DNA in muscle and oxidative capacity 24 patients with myopathy (MM). Maximal oxygen uptake (VO 2max ), workload (W max venous plasma lactate levels were measured during an incremental cycle test exhaustion 17 point mutations mtDNA seven single, large‐scale deletions (chronic progressive external ophthalmoplegia [CPEO]). Results compared those 25 healthy matched subjects. mutation load MM...

<h3>Background</h3> Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of disease and genetic counseling. <h3>Objective</h3> To investigate relationship between muscle blood mitochondrial DNA mutation load phenotype. <h3>Design</h3> Survey. <h3>Setting</h3> The Neuromuscular Research Unit, Rigshospitalet, Copenhagen, Denmark. <h3>Participants</h3> Fifty-one persons 3243A&gt;G point DNA, 20 healthy control...

It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency associated with exercise-related symptoms and impaired metabolism, because 1) only four patients have been characterized at the molecular level, 2) reported nonspecific, 3) lactate responses ischemic handgrip exercise normal.We studied a 50-year-old man X-linked PHK using forearm cycle ergometry tests define derangement of metabolism. We compared our findings those in McArdle disease healthy subjects.Sequencing PHKA1...

<b>Objective:</b> It is known that muscle phosphorylase deficiency restricts carbohydrate utilization, but the implications for fat metabolism have not been studied. We questioned whether patients with McArdle disease can compensate blocked glycogen breakdown by enhancing oxidation during exercise. <b>Methods:</b> studied total indirect calorimetry and palmitate turnover stable isotope methodology in 11 healthy controls. Cycle exercise at a constant workload of 50% to 60% maximal oxygen...

We examined the effect of aerobic exercise in patients with spinal and bulbar muscular atrophy (SBMA). SBMA is caused by a defect androgen receptor. This causes motor neuron death, but considering important function androgens muscle, it possible that muscle damage also occurs independently damage.Eight engaged regular cycling for 12 weeks. Maximum oxygen uptake (Vo(2max)), maximal work capacity (W(max)), morphology, citrate synthase (CS) activity, body composition, EMG, static strength...

Mitochondrial dysfunction is thought to be involved in age-related loss of muscle mass and function (sarcopenia). Since the degree physical activity vital for skeletal mitochondrial content, aim this study was investigate effect 6 weeks aerobic exercise training 8 deconditioning on functional parameters capacity markers elderly compared young individuals. In 11 healthy, (80 ± 4 years old) 10 (24 3 volunteers, improved maximal oxygen consumption rate by 13%, workload 34%, endurance 2.4-fold...

It is unknown whether prolonged training a safe treatment to alleviate exercise intolerance in patients with mitochondrial DNA (mtDNA) mutations.The effect of 3 and 12 months 3-12 deconditioning was studied four carrying different mtDNA mutations.Three-month moderate-intensity increased oxidative capacity by 23%, which sustained after 6-12 low-intensity training. Training did not induce adverse effects on clinical symptoms, muscle morphology mutation load muscle.Long-term effectively...

Mitochondrial DNA (mtDNA) replication is thought to be an integral part of exercise-training-induced mitochondrial adaptations. Thus, mtDNA level often used as index adaptations in training studies. We investigated the hypothesis that endurance exercise training-induced enzymatic changes are independent genomic dosage by studying content skeletal muscle response six weeks knee-extensor followed four deconditioning one leg, comparing results contralateral untrained 10 healthy, male...

The major fuel for exercising muscle at low exercise intensities is fat.To investigate the role of fat metabolism in McArdle disease (also known as glycogen storage type V), an inborn error glycogenolysis, by manipulating free fatty acid availability oxidation during exercise.Randomized, placebo-controlled, crossover trial.Hospitalized care.Ten patients (8 men and 2 women) with disease.Patients cycled a constant workload corresponding to 70% their maximum oxygen consumption. In random order...

Aging is related to an inevitable loss of muscle mass and strength. The mechanisms behind age-related tissue are not fully understood but may, among other things, be induced by differences in myogenic regulatory factors. Resistance exercise training deconditioning offers a model investigate factors that may important for Nine elderly (82 ± 7 years old) nine young, healthy persons (22 2 participated the study. Exercise consisted six weeks resistance quadriceps followed eight deconditioning....

Abstract Background Palbociclib is a selective well-tolerated antineoplastic drug used in the treatment of advanced HER2-negative, estrogen-receptor positive breast cancer that has shown significant improvement progression-free survival. We present patient developed severe rhabdomyolysis with tetra-affection and loss gait after initiating first cycle concomitantly Simvastatin 40 mg treatment. Case presentation A 71-year-old woman metastatic tetraparesis near fatal initiation Palbociclib. For...

Abstract We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis muscle in adult patients with mitochondrial myopathy (MM). RC activity was measured biopsies from 39 who carry either 3243A&gt;G mutation, other tRNA point mutations, or single, large‐scale deletions mtDNA. Findings were compared those obtained asymptomatic relatives myotonic dystrophy patients, and healthy subjects. Plasma lactate concentration, maximal oxygen uptake, ragged‐red fibers/cytochrome c...

The point mutation of 3243A>G mtDNA is the most frequent cause mitochondrial diabetes, often presenting as syndrome maternally inherited diabetes and deafness (MIDD). may also myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, cardiomyopathy in various combinations. Consequently, it difficult to predict "phenotypic risk profile" mutation-positive subjects. coexists cells with wild-type mtDNA, a phenomenon called heteroplasmy. marked variability loads different tissues main explanation for...

To determine whether patients with defects of the respiratory chain have metabolic adaptations that promote a preferential use fats or carbohydrates, similar to what is observed in myopathies affecting glycolysis fat oxidation.Causation and case-control study. Fat metabolism was determined by means indirect calorimetry stable isotope technique healthy subjects. Patients carried various types loads (mean [SE], 72% [5%]) mitochondrial DNA (mtDNA) mutations skeletal muscle. All subjects...