130533 20240125162931.0 doi 10.1016/j.bbadis.2012.04.014 sideral 78265 ART-2012-78265 eng Gómez-Durán,A. Universidad de Zaragoza Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy 2012 Leber'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. info:eu-repo/semantics/closedAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 4.91 2012 BIOPHYSICS 11 / 71 = 0.155 2012 Q1 T1 BIOCHEMISTRY & MOLECULAR BIOLOGY 58 / 288 = 0.201 2012 Q1 T1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Pacheu-Grau,D. Universidad de Zaragoza (orcid)0000-0003-2645-3983 Martínez-Romero,T. López-Gallardo,E. Universidad de Zaragoza (orcid)0000-0002-3217-1424 López-Pérez,M. J. Universidad de Zaragoza (orcid)0000-0003-2125-9903 Montoya,J. Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini,E. Universidad de Zaragoza (orcid)0000-0002-0269-7337 1008 566 Universidad de Zaragoza Dpto. Microb.Med.Pr.,Sal.Públ. Área Inmunología 1002 X Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Proy. investigación DEA 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 1822, 8 (2012), 1216-1222 Biochim. biophys. acta, Mol. basis dis. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 0925-4439 473219 http://zaguan.unizar.es/record/130533/files/texto_completo.pdf Versión publicada 3079174 http://zaguan.unizar.es/record/130533/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:130533 articulos driver 2024-01-25-15:18:01 ARTICLE