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

• Main Authors: Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini
• Format: Article
• Language: English
• Published: BMC 2019-06-01
• Series: Orphanet Journal of Rare Diseases
• Subjects: Mitochondrial DNA; Leber hereditary optic neuropathy; Ketogenic diet
• Online Access: http://link.springer.com/article/10.1186/s13023-019-1128-z

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.