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

Emperador, Sonia (Universidad de Zaragoza) ; López-Gallardo, Ester (Universidad de Zaragoza) ; Hernández-Ainsa, Carmen (Universidad de Zaragoza) ; Habbane, Mouna ; Montoya, Julio (Universidad de Zaragoza) ; Bayona-Bafaluy, M. Pilar (Universidad de Zaragoza) ; Ruiz-Pesini, Eduardo (Universidad de Zaragoza)

Resumen: 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.

Idioma: Inglés

DOI: 10.1186/s13023-019-1128-z

Año: 2019

Publicado en: Orphanet Journal of Rare Diseases 14 (2019), 150 [6 pp.]
ISSN: 1750-1172

Factor impacto JCR: 3.523 (2019)

Categ. JCR: MEDICINE, RESEARCH & EXPERIMENTAL rank: 58 / 138 = 0.42 (2019) - Q2 - T2
Categ. JCR: GENETICS & HEREDITY rank: 58 / 177 = 0.328 (2019) - Q2 - T1

Factor impacto SCIMAGO: 1.275 - Medicine (miscellaneous) (Q1) - Pharmacology (medical) (Q1) - Genetics (clinical) (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B33-17R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)