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

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\u2009T\u2009>\u2009C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G\u2009>\u2009A mitochondrial genotype.ConclusionsThese results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.