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

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 hete...

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Detalles Bibliográficos
Autores: Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Habbane, Mouna, Montoya, Julio, Bayona-Bafaluy, M. Pilar, Ruiz-Pesini, Eduardo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:Universidad de Zaragoza
Repositorio:Zaguán. Repositorio Digital de la Universidad de Zaragoza
OAI Identifier:oai:zaguan.unizar.es:89884
Acceso en línea:http://zaguan.unizar.es/record/89884
Access Level:acceso abierto
Descripción
Sumario: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.

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