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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | osteosarcoma | Research

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Authors: Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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Abstract

Background

The 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.

Results

Here 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.

Conclusions

These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.
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Metadata
Title
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
Authors
Sonia Emperador
Ester López-Gallardo
Carmen Hernández-Ainsa
Mouna Habbane
Julio Montoya
M. Pilar Bayona-Bafaluy
Eduardo Ruiz-Pesini
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-019-1128-z

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