S. Emperador, E. López-Gallardo, C. Hernández-Ainsa, M. Habbane, J. Montoya, MP. Bayona-Bafaluy, et al. (2019). Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation. Orphanet journal of rare diseases, 14(1), 150. https://doi.org/10.1186/s13023-019-1128-z

PubMed 31226990

[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.