Expanding the clinical phenotypes of MT-ATP6 mutations

López-Gallardo, Ester (Universidad de Zaragoza) ; Emperador, Sonia ; Solano, Abelardo ; Llobet, Laura ; Martín-Navarro, Antonio ; López-Pérez, Manuel José (Universidad de Zaragoza) ; Briones, Paz ; Pineda, Mercedes ; Artuch, Rafael ; Barraquer, Elena ; Jericó, Ivonne ; Ruiz-Pesini, Eduardo (Universidad de Zaragoza) ; Montoya, Julio (Universidad de Zaragoza)

Resumen: 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.

Idioma: Inglés

DOI: 10.1093/hmg/ddu339

Año: 2014

Publicado en: HUMAN MOLECULAR GENETICS 23, 23 (2014), 6191-6200
ISSN: 0964-6906

Factor impacto JCR: 6.393 (2014)

Categ. JCR: GENETICS & HEREDITY rank: 17 / 166 = 0.102 (2014) - Q1 - T1
Categ. JCR: BIOCHEMISTRY & MOLECULAR BIOLOGY rank: 32 / 290 = 0.11 (2014) - Q1 - T1

Financiación: info:eu-repo/grantAgreement/ES/FIS/FI12/00217
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI10-00662
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI11-01301

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)