000130533 001__ 130533
000130533 005__ 20240125162931.0
000130533 0247_ $$2doi$$a10.1016/j.bbadis.2012.04.014
000130533 0248_ $$2sideral$$a78265
000130533 037__ $$aART-2012-78265
000130533 041__ $$aeng
000130533 100__ $$aGómez-Durán,A.$$uUniversidad de Zaragoza
000130533 245__ $$aOxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy
000130533 260__ $$c2012
000130533 5203_ $$aLeber's hereditary optic neuropathy is a maternally inherited optic atrophy caused by mitochondrial DNA point mutations. Previous epidemiological studies have shown that individuals from mitochondrial genetic backgrounds (haplogroups) J/Uk and H have a higher and a lower risk, respectively, of suffering this disorder. To analyze the bases of these associations at cellular and molecular levels, functional studies with cybrids provide high quality evidence. Cybrids from haplogroup J contain less mitochondrial deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) and synthesize a smaller amount of mitochondrial DNA-encoded polypeptides than those from haplogroup H. Haplogroup J cybrids also display lower oxygen consumption, mitochondrial inner membrane potential and total adenosine‐5′‐triphosphate (ATP) levels. Moreover, mitochondrial DNA levels correlate with many parameters of the oxidative phosphorylation system. These results suggest that the mitochondrial DNA amount determines oxidative phosphorylation capacity and, along with other recently published observations, support the possibility that mitochondrial DNA levels may be responsible for the bias of the disorder toward males, for the incomplete penetrance of mutations causing Leber's hereditary optic neuropathy and for the association of the disease with particular mitochondrial DNA haplogroups.
000130533 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000130533 590__ $$a4.91$$b2012
000130533 591__ $$aBIOPHYSICS$$b11 / 71 = 0.155$$c2012$$dQ1$$eT1
000130533 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b58 / 288 = 0.201$$c2012$$dQ1$$eT1
000130533 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130533 700__ $$0(orcid)0000-0003-2645-3983$$aPacheu-Grau,D.$$uUniversidad de Zaragoza
000130533 700__ $$aMartínez-Romero,T.
000130533 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo,E.$$uUniversidad de Zaragoza
000130533 700__ $$0(orcid)0000-0003-2125-9903$$aLópez-Pérez,M. J.$$uUniversidad de Zaragoza
000130533 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya,J.$$uUniversidad de Zaragoza
000130533 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini,E.$$uUniversidad de Zaragoza
000130533 7102_ $$11008$$2566$$aUniversidad de Zaragoza$$bDpto. Microb.Med.Pr.,Sal.Públ.$$cÁrea Inmunología
000130533 7102_ $$11002$$2X$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cProy. investigación DEA
000130533 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130533 773__ $$g1822, 8 (2012), 1216-1222$$pBiochim. biophys. acta, Mol. basis dis.$$tBIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE$$x0925-4439
000130533 8564_ $$s473219$$uhttps://zaguan.unizar.es/record/130533/files/texto_completo.pdf$$yVersión publicada
000130533 8564_ $$s3079174$$uhttps://zaguan.unizar.es/record/130533/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130533 909CO $$ooai:zaguan.unizar.es:130533$$particulos$$pdriver
000130533 951__ $$a2024-01-25-15:18:01
000130533 980__ $$aARTICLE