000089884 001__ 89884
000089884 005__ 20200716101507.0
000089884 0247_ $$2doi$$a10.1186/s13023-019-1128-z
000089884 0248_ $$2sideral$$a112595
000089884 037__ $$aART-2019-112595
000089884 041__ $$aeng
000089884 100__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000089884 245__ $$aKetogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.
000089884 260__ $$c2019
000089884 5060_ $$aAccess copy available to the general public$$fUnrestricted
000089884 5203_ $$aBackground: 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.
000089884 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-17R$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166
000089884 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000089884 592__ $$a1.275$$b2019
000089884 590__ $$a3.523$$b2019
000089884 593__ $$aMedicine (miscellaneous)$$c2019$$dQ1
000089884 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b58 / 138 = 0.42$$c2019$$dQ2$$eT2
000089884 593__ $$aPharmacology (medical)$$c2019$$dQ1
000089884 591__ $$aGENETICS & HEREDITY$$b58 / 177 = 0.328$$c2019$$dQ2$$eT1
000089884 593__ $$aGenetics (clinical)$$c2019$$dQ2
000089884 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000089884 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000089884 700__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, Carmen$$uUniversidad de Zaragoza
000089884 700__ $$aHabbane, Mouna
000089884 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000089884 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M. Pilar$$uUniversidad de Zaragoza
000089884 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000089884 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000089884 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000089884 773__ $$g14 (2019), 150 [6 pp.]$$pOrphanet Journal of Rare Diseases$$tOrphanet Journal of Rare Diseases$$x1750-1172
000089884 8564_ $$s796482$$uhttps://zaguan.unizar.es/record/89884/files/texto_completo.pdf$$yVersión publicada
000089884 8564_ $$s49218$$uhttps://zaguan.unizar.es/record/89884/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000089884 909CO $$ooai:zaguan.unizar.es:89884$$particulos$$pdriver
000089884 951__ $$a2020-07-16-09:16:51
000089884 980__ $$aARTICLE