ArticleOrphanet journal of rare diseases2019
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.Orphanet journal of rare diseases · 2021Pooled it
- Sterile inflammation in LHON: mitochondrial stress, innate immune signaling, and implications for AAV gene therapy.Frontiers in immunology · 2026Review
- Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.Orphanet journal of rare diseases · 2024Article
- The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy.Biomedicines · 2024Review
- Role of mitochondrial DNA in diabetes Mellitus Type I and Type II.Saudi journal of biological sciences · 2022Review
- Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.Diagnostics (Basel, Switzerland) · 2022Article
- Mitochondrial transfer/transplantation: an emerging therapeutic approach for multiple diseases.Cell & bioscience · 2022Review
- Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.Disease models & mechanisms · 2022Article
- Human Mitochondrial DNA: Particularities and Diseases.Biomedicines · 2021Review
- The Role of Mitochondrial Mutations and Chronic Inflammation in Diabetes.International journal of molecular sciences · 2021Review
- Leber Hereditary Optic Neuropathy: Review of Treatment and Management.Frontiers in neurology · 2021Review
- Current progress in the therapeutic options for mitochondrial disorders.Physiological research · 2020Article
- Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.Brain sciences · 2020Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or the elevation of mitochondrial DNA amount in homoplasmic patients.
resultsHere we show that ketogenic treatment, in cybrid cell lines, reduces the percentage of the m.13094 T > C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G > A mitochondrial genotype.
conclusionsThese results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.
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Registered trials
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