期刊
EMBO MOLECULAR MEDICINE
卷 8, 期 11, 页码 1234-1247出版社
WILEY
DOI: 10.15252/emmm.201606592
关键词
mitochondrial myopathy; modified Atkins diet; PEO; ragged-red-fibers
资金
- Sigrid Juselius Foundation
- Jane and Aatos Erkko Foundation
- European Research Council
- Academy of Finland
- University of Helsinki
- Helsinki University Central Hospital
- Biomedicum Helsinki Foundation
- Helsinki Biomedical Graduate School, University of Helsinki
- Waldemar von Frenckells stiftelse
- Finnish Cultural Foundation
- Alexander von Humboldt Foundation
- Novo Nordisk Fonden [NNF10OC1013354] Funding Source: researchfish
Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is no curative therapy. In mice with MM, ketogenic diet significantly delayed progression of the disease. We asked in this pilot study what effects high-fat, low-carbohydrate modified Atkins diet (mAD) had for PEO/MM patients and control subjects and followed up the effects by clinical, morphological, transcriptomic, and metabolomic analyses. All of our five patients, irrespective of genotype, showed a subacute response after 1.5-2weeks of diet, with progressive muscle pain and leakage of muscle enzymes, leading to premature discontinuation of the diet. Analysis of muscle ultrastructure revealed selective fiber damage, especially in the ragged-red-fibers (RRFs), a MM hallmark. Two years of follow-up showed improvement of muscle strength, suggesting activation of muscle regeneration. Our results indicate that (i) nutrition can modify mitochondrial disease progression, (ii) dietary counseling should be part of MM care, (iii) short mAD is a tool to induce targeted RRF lysis, and (iv) mAD, a common weight-loss method, may induce muscle damage in a population subgroup.
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