Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations
Mutations in mitochondrial DNA (mtDNA) cause disruption of the oxidative phosphorylation chain and impair energy production in cells throughout the human body. Primary mitochondrial disorders due to mtDNA mutations can present with symptoms from adult-onset mono-organ affection to death in infancy d...
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doaj-9ea49a1bcca94ac28936257c9b6962592021-04-20T23:05:25ZengMDPI AGJournal of Clinical Medicine2077-03832021-04-01101796179610.3390/jcm10081796Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA MutationsTina D. Jeppesen0Karen L. Madsen1Nanna S. Poulsen2Nicoline Løkken3John Vissing4Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University Hospital of Copenhagen, 2100 Copenhagen, DenmarkCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University Hospital of Copenhagen, 2100 Copenhagen, DenmarkCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University Hospital of Copenhagen, 2100 Copenhagen, DenmarkCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University Hospital of Copenhagen, 2100 Copenhagen, DenmarkCopenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University Hospital of Copenhagen, 2100 Copenhagen, DenmarkMutations in mitochondrial DNA (mtDNA) cause disruption of the oxidative phosphorylation chain and impair energy production in cells throughout the human body. Primary mitochondrial disorders due to mtDNA mutations can present with symptoms from adult-onset mono-organ affection to death in infancy due to multi-organ involvement. The heterogeneous phenotypes that patients with a mutation of mtDNA can present with are thought, at least to some extent, to be a result of differences in mtDNA mutation load among patients and even among tissues in the individual. The most common symptom in patients with mitochondrial myopathy (MM) is exercise intolerance. Since mitochondrial function can be assessed directly in skeletal muscle, exercise studies can be used to elucidate the physiological consequences of defective mitochondria due to mtDNA mutations. Moreover, exercise tests have been developed for diagnostic purposes for mitochondrial myopathy. In this review, we present the rationale for exercise testing of patients with MM due to mutations in mtDNA, evaluate the diagnostic yield of exercise tests for MM and touch upon how exercise tests can be used as tools for follow-up to assess disease course or effects of treatment interventions.https://www.mdpi.com/2077-0383/10/8/1796mitochondrial myopathymtDNA mutationexercise testingfatigue |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tina D. Jeppesen Karen L. Madsen Nanna S. Poulsen Nicoline Løkken John Vissing |
spellingShingle |
Tina D. Jeppesen Karen L. Madsen Nanna S. Poulsen Nicoline Løkken John Vissing Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations Journal of Clinical Medicine mitochondrial myopathy mtDNA mutation exercise testing fatigue |
author_facet |
Tina D. Jeppesen Karen L. Madsen Nanna S. Poulsen Nicoline Løkken John Vissing |
author_sort |
Tina D. Jeppesen |
title |
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations |
title_short |
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations |
title_full |
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations |
title_fullStr |
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations |
title_full_unstemmed |
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations |
title_sort |
exercise testing, physical training and fatigue in patients with mitochondrial myopathy related to mtdna mutations |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2021-04-01 |
description |
Mutations in mitochondrial DNA (mtDNA) cause disruption of the oxidative phosphorylation chain and impair energy production in cells throughout the human body. Primary mitochondrial disorders due to mtDNA mutations can present with symptoms from adult-onset mono-organ affection to death in infancy due to multi-organ involvement. The heterogeneous phenotypes that patients with a mutation of mtDNA can present with are thought, at least to some extent, to be a result of differences in mtDNA mutation load among patients and even among tissues in the individual. The most common symptom in patients with mitochondrial myopathy (MM) is exercise intolerance. Since mitochondrial function can be assessed directly in skeletal muscle, exercise studies can be used to elucidate the physiological consequences of defective mitochondria due to mtDNA mutations. Moreover, exercise tests have been developed for diagnostic purposes for mitochondrial myopathy. In this review, we present the rationale for exercise testing of patients with MM due to mutations in mtDNA, evaluate the diagnostic yield of exercise tests for MM and touch upon how exercise tests can be used as tools for follow-up to assess disease course or effects of treatment interventions. |
topic |
mitochondrial myopathy mtDNA mutation exercise testing fatigue |
url |
https://www.mdpi.com/2077-0383/10/8/1796 |
work_keys_str_mv |
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