How beneficial are exercises for primary mitochondrial diseases?

However, the benefits of exercise in patients with primary mitochondrial diseases, which are heterogeneous and caused by a variety of genetic mutations, are largely unknown.

Exercises in mitochondrial disease

Current research has demonstrated that The benefits of endurance training may vary depending on the type of mutation associated with mitochondrial disease. Although the benefits of exercise may outweigh the risks, genetic conditions should be considered when recommending it as therapy.

Primary mitochondrial diseases represent the most common inherited metabolic disorders, affecting about 1 in every 4,200 people. These disorders can be caused by hundreds of different mutations in nuclear DNA (the DNA in our cells) or mitochondrial DNA (mtDNA, or the mitochondrial DNA in our cells).

Common treatments for these patients are limited. However, endurance exercise has been shown to improve mitochondrial function in healthy individuals and reduce the risk of developing secondary metabolic disorders such as diabetes or neurodegenerative disorders.

However, these recommendations are based on healthy individuals without primary mitochondrial disease. Therefore, the researchers wanted to determine the effect for these patients and whether they would benefit from resistance training.

Patrick Schaefer, PhD, a postdoctoral fellow in the Center for Mitochondrial and Epigenetic Medicine at CHOP and first author of the study, said: doctor when looking at a patient with mitochondrial disease. “Exercise helps create more mitochondria, but if those mitochondria still have the mutations associated with primary mitochondrial disease, exercise could put some patients at risk.”

Because of the heterogeneity of primary mitochondrial disease between patients, the researchers used animal models to study the five mutations that cause the disease. The aim of the study is to determine relationship between mitochondrial mutation, endurance exercise response and underlying molecular pathways in these models with separate mitochondrial mutations.

Treatment strategies for mitochondrial diseases

The study showed that endurance training had different effects on the models depending on the mutation involved. Practice improves response in a model with mtDNA ND6 mutations in complex I.

The model with a CO1 mutation affecting complex IV showed significantly less positive effects related to exercise, and the model with the 1 ND5 complex mutation did not respond to exercise at all. In the Ant1 nuclear DNA deficiency model, endurance training exacerbated cardiomyopathy.

In addition, the researchers were able to correlate the gene expression profiles of skeletal muscle and heart in the model with exercise response and identify oxidative phosphorylation, amino acid metabolism, and cell cycle regulation. cells are important pathways in exercise response, suggesting how the model could be adapted to study exercise response in humans with primary mitochondrial disease.

Although responses have varied to the models used in this study, the authors note that the benefits of exercise outweigh the risks in most cases. However, the patient’s physical and mitochondrial condition should be taken into account when recommending therapeutic exercises.

In addition, the study could help researchers identify biomarkers and pathways to help predict mitochondrial responses to exercise in both mitochondrial patients and healthy populations containing different mitochondrial haplogroups.

Senior study author Douglas C. Wallace, PhD, director of the Center for Mitochondrial and Symbolic Medicine at CHOP, Michael and Charles, said: “This work is of fundamental importance in demonstrating that Individuals with different mitochondrial biomes will respond differently to endurance exercise. The Barnett Chair is endowed in mitochondrial medicine and pediatric metabolic disease. “This has broad relevance to individuals ranging from athletes to patients with mitochondrial disease and everyone in between.”

Source: Eurekalert

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