131023 20240202151704.0 doi 10.1093/hmg/ddu339 sideral 136731 ART-2014-136731 eng López-Gallardo, Ester Universidad de Zaragoza (orcid)0000-0002-3217-1424 Expanding the clinical phenotypes of MT-ATP6 mutations 2014 Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene. To correct this bias, we have performed a screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. In three cases, biochemical, molecular-genetics and other analyses in patient tissues and cybrids were also carried out. We found three new pathologic mutations. Two of them in patients showing phenotypes that have not been commonly associated to mutations in the MT-ATP6 gene. These results remark the importance of sequencing the MT-ATP6 gene in patients with striatal necrosis syndromes, but also within other mitochondrial pathologies. This gene should be sequenced at least in all those patients suspected of suffering an mtDNA disorder disclosing normal results for histochemical and biochemical analyses of respiratory chain. Access copy available to the general public Unrestricted info:eu-repo/grantAgreement/ES/FIS/FI12/00217 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI10-00662 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI11-01301 info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 6.393 2014 GENETICS & HEREDITY 17 / 166 = 0.102 2014 Q1 T1 BIOCHEMISTRY & MOLECULAR BIOLOGY 32 / 290 = 0.11 2014 Q1 T1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Emperador, Sonia (orcid)0000-0001-5964-6138 Solano, Abelardo Llobet, Laura Martín-Navarro, Antonio López-Pérez, Manuel José Universidad de Zaragoza (orcid)0000-0003-2125-9903 Briones, Paz Pineda, Mercedes Artuch, Rafael Barraquer, Elena Jericó, Ivonne Ruiz-Pesini, Eduardo Universidad de Zaragoza (orcid)0000-0002-0269-7337 Montoya, Julio Universidad de Zaragoza (orcid)0000-0003-1770-6299 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 23, 23 (2014), 6191-6200 Hum. mol. genet. HUMAN MOLECULAR GENETICS 0964-6906 619765 http://zaguan.unizar.es/record/131023/files/texto_completo.pdf Versión publicada 3051989 http://zaguan.unizar.es/record/131023/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:131023 articulos driver 2024-02-02-14:54:00 ARTICLE