000075588 001__ 75588
000075588 005__ 20191105115759.0
000075588 0247_ $$2doi$$a10.1167/iovs.16-20389
000075588 0248_ $$2sideral$$a99105
000075588 037__ $$aART-2017-99105
000075588 041__ $$aeng
000075588 100__ $$aBianco, A.
000075588 245__ $$aHigh mitochondrial DNA copy number is a protective factor from vision loss in heteroplasmic leber’s hereditary optic neuropathy (LHON)
000075588 260__ $$c2017
000075588 5060_ $$aAccess copy available to the general public$$fUnrestricted
000075588 5203_ $$aPURPOSE. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance.
METHODS. We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated.
RESULTS. The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects. We found higher cellular mtDNA content in peripheral blood cells of unaffected heteroplasmic mutation carriers with respect to the affected.
CONCLUSIONS. The increase of cellular mtDNA content prevents complete loss of vision despite the presence of a heteroplasmic state of LHON primary mutation, suggesting that it is a key factor responsible for penetrance of LHON.
000075588 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/P114-00005
000075588 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000075588 590__ $$a3.388$$b2017
000075588 591__ $$aOPHTHALMOLOGY$$b9 / 59 = 0.153$$c2017$$dQ1$$eT1
000075588 592__ $$a2.058$$b2017
000075588 593__ $$aCellular and Molecular Neuroscience$$c2017$$dQ1
000075588 593__ $$aSensory Systems$$c2017$$dQ1
000075588 593__ $$aOphthalmology$$c2017$$dQ1
000075588 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000075588 700__ $$aBisceglia, L.
000075588 700__ $$aRusso, L.
000075588 700__ $$aPalese, L.L.
000075588 700__ $$aD’Agruma, L.
000075588 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000075588 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000075588 700__ $$aGuerriero, S.
000075588 700__ $$aPetruzzella, V.
000075588 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000075588 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000075588 773__ $$g58, 4 (2017), 2193-2197$$pInvestig. ophthalmol. vis. sci.$$tINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE$$x0146-0404
000075588 8564_ $$s298377$$uhttps://zaguan.unizar.es/record/75588/files/texto_completo.pdf$$yVersión publicada
000075588 8564_ $$s129783$$uhttps://zaguan.unizar.es/record/75588/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000075588 909CO $$ooai:zaguan.unizar.es:75588$$particulos$$pdriver
000075588 951__ $$a2019-11-05-11:49:56
000075588 980__ $$aARTICLE