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Emperador, Sonia; López-Gallardo, Ester; Hernández-Ainsa, Carmen; Habbane, Mouna; Montoya, Julio; Bayona-Bafaluy, M Pilar; Ruiz-Pesini, Eduardo
Orphanet journal of rare diseases, 06/2019, Letnik: 14, Številka: 1Journal Article
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. 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. These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.
