Abstract
PurposeMitochondrial disease is the most common neuromuscular disease and has a profound impact upon daily life, disease and longevity. Exercise therapy has been shown to improve mitochondrial function in patients with mitochondrial disease. However, no information exists about the level of habitual physical activity of people with mitochondrial disease and its relationship with clinical phenotype.MethodsHabitual physical activity, genotype and clinical presentations were assessed in 100 patients with mitochondrial disease. Comparisons were made with a control group individually matched by age, gender and BMI.ResultsPatients with mitochondrial disease had significantly lower levels of physical activity in comparison to matched people without mitochondrial disease (steps/day; 6883±3944 vs. 9924±4088, p = 0.001). 78% of the mitochondrial disease cohort did not achieve 10,000 steps per day and 48%were classified as overweight or obese. Mitochondrial disease was associated with less breaks in sedentary activity (Sedentary to Active Transitions, % per day; 13±0.03 vs. 14±0.03, p = 0.001) and an increase in sedentary bout duration (bout lengths / fraction of total sedentary time; 0.206±0.044 vs. 0.187±0.026, p = 0.001). After adjusting for covariates, higher physical activity was moderately associated with lower clinical disease burden (steps / day; rs = −0.49; 95% CI −0.33, −0.63, P<0.01). There were no systematic differences in physical activity between different genotypes mitochondrial disease.ConclusionsThese results demonstrate for the first time that low levels of physical activity are prominent in mitochondrial disease. Combined with a high prevalence of obesity, physical activity may constitute a significant and potentially modifiable risk factor in mitochondrial disease.
Highlights
Mitochondria are ubiquitous intracellular organelles found in all nucleated cells and are responsible for energy production and cellular respiration. They are involved in various different cellular processes including calcium signalling [1], cellular metabolism [2], and cytochrome c mediated apoptosis [3]
It is not known whether the reduced exercise tolerance associated with mitochondrial disease is associated with reduced daily physical activity
Gender, disease burden and physical activity Mitochondrial disease patients performed significantly less physical activity than the control group (Table 1), with mean differences between groups of 3041 steps per day and 0.09 average METs per day
Summary
Mitochondria are ubiquitous intracellular organelles found in all nucleated cells and are responsible for energy production and cellular respiration. They are involved in various different cellular processes including calcium signalling [1], cellular metabolism [2], and cytochrome c mediated apoptosis [3]. Exercise intolerance is a characteristic hallmark of patients with mitochondrial disease, with muscle weakness and fatigue reported after low levels of exertion [10]. It is not known whether the reduced exercise tolerance associated with mitochondrial disease is associated with reduced daily physical activity. As an important mediator of mortality, life expectancy, physical function and the onset of disability in normal aging [11,12,13], physical activity may represent an environmental influence that acts independently of the genetic predisposition
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