Journal
ORPHANET JOURNAL OF RARE DISEASES
Volume 14, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s13023-019-1128-z
Keywords
Mitochondrial DNA; Leber hereditary optic neuropathy; Ketogenic diet
Funding
- Instituto de Salud Carlos III [PI17/00021, PI17/00166]
- Gobierno de Aragon [B33_17R]
- FEDER 2014-2020 Construyendo Europa desde Aragon
- Asociacion de Enfermos de Patologia Mitocondrial (AEPMI)
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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.13094T>C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G>A mitochondrial genotype.ConclusionsThese results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.
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