89884 20200716101507.0 doi 10.1186/s13023-019-1128-z sideral 112595 ART-2019-112595 eng (orcid)0000-0001-5964-6138 Emperador, Sonia Universidad de Zaragoza Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation. 2019 Access copy available to the general public Unrestricted 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. info:eu-repo/grantAgreement/ES/DGA/B33-17R info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 1.275 2019 3.523 2019 Medicine (miscellaneous) 2019 Q1 MEDICINE, RESEARCH & EXPERIMENTAL 58 / 138 = 0.42 2019 Q2 T2 Pharmacology (medical) 2019 Q1 GENETICS & HEREDITY 58 / 177 = 0.328 2019 Q2 T1 Genetics (clinical) 2019 Q2 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion (orcid)0000-0002-3217-1424 López-Gallardo, Ester Universidad de Zaragoza (orcid)0000-0003-3524-5158 Hernández-Ainsa, Carmen Universidad de Zaragoza Habbane, Mouna (orcid)0000-0003-1770-6299 Montoya, Julio Universidad de Zaragoza (orcid)0000-0002-8585-6371 Bayona-Bafaluy, M. Pilar Universidad de Zaragoza (orcid)0000-0002-0269-7337 Ruiz-Pesini, Eduardo Universidad de Zaragoza 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 14 (2019), 150 [6 pp.] Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases 1750-1172 796482 http://zaguan.unizar.es/record/89884/files/texto_completo.pdf Versión publicada 49218 http://zaguan.unizar.es/record/89884/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:89884 articulos driver 2020-07-16-09:16:51 ARTICLE