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Updated: Jun 27, 2026
Measurement of Mitochondrial Respiration in Human and Mouse Skeletal Muscle Fibers by High-Resolution Respirometry
Published on: October 4, 2024
Mitochondrial energy production correlates with the age-related BMI
Saskia B Wortmann1, Heidi Zweers-van Essen, Richard J T Rodenburg
1Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.
Insights
Optimizing nutrition in children with suspected mitochondrial disorders is crucial. Improved body mass index (BMI) correlates with better adenosine triphosphate (ATP) production, impacting diagnostic accuracy in muscle biopsies.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Mitochondrial dysfunction in children often presents with feeding issues and failure to thrive, potentially linked to malnutrition.
- Secondary mitochondrial dysfunction can occur in severe chronic malnutrition, affecting energy expenditure.
- Oxidative phosphorylation system (OXPHOS) disorders are suspected in children with neurologic and musculoskeletal symptoms.
Purpose of the Study:
- To evaluate the nutritional status, growth parameters, and metabolic condition in children with suspected OXPHOS disorders.
- To assess the correlation between mitochondrial adenosine triphosphate (ATP) production and nutritional/growth parameters.
- To determine the impact of nutritional state on the interpretation of muscle biopsy results.
Main Methods:
- Nutritional evaluation and intervention were performed prior to muscle biopsy in 172 children.
- Muscle biopsies were analyzed for enzyme-complex deficiencies and/or mutations to confirm mitochondrial dysfunction.
- Dietary assessments were conducted to evaluate nutritional intake and identify potential issues.
Main Results:
- Mitochondrial dysfunction was confirmed in 83 children; 14 showed no biochemical abnormalities.
- A significant positive correlation was found between mitochondrial ATP production and age-related body mass index (BMI) in the overall group and subgroups.
- Nutritional status and growth parameters were identified as important factors influencing ATP production measurements.
Conclusions:
- Nutritional state and growth parameters must be considered when interpreting ATP production in fresh muscle biopsies.
- Optimizing nutritional status before muscle biopsy is strongly advised for children with suspected OXPHOS disorders.
- Dietary interventions are challenging due to frequent gastrointestinal problems and eating disorders in this pediatric population.
Abstract:
Besides characteristic neurologic and musculoskeletal symptoms, children with mitochondrial dysfunction often present with feeding problems and failure to thrive. Substrate depletion for the respiratory chain has an effect on energy expenditure. Secondary mitochondrial dysfunction has been reported in severe chronic malnutrition. We evaluated the nutritional state, the growth parameters, and the metabolic condition in 172 children undergoing muscle biopsy for a suspected disorder of the oxidative phosphorylation system (OXPHOS). We performed dietary evaluation and initiated nutritional intervention when needed before the biopsy. Mitochondrial dysfunction was confirmed by detection of enzyme-complex deficiencies and/or by mutations in 83 children, in 14 patients no biochemical abnormalities were found. In the whole study group, and in the subgroup with enzyme-complex deficiency and/or mutation, a significant correlation was found between the mitochondrial production of adenosine triphosphate (ATP) and the age-related body mass index (BMI). Nutritional state and growth should be considered by interpreting the results of ATP-production in fresh muscle biopsy. Because of a positive correlation between the age-appropriate BMI and the ATP-production, we strongly advise optimizing the nutritional state preceding the muscle biopsy in children with a suspected OXPHOS-disorder. Dietary intervention remains although challenging because of frequent gastrointestinal problems and eating disorders.
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