title: Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
abstract: We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.
authors.affiliation: Departamento de Bioquímica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.
authors.forename: Abelardo
authors.initials: A
authors.lastname: Solano
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig
authors.forename: Cristofol
authors.initials: C
authors.lastname: Vives-Bauza
authors.forename: Jose
authors.initials: J
authors.lastname: Hernandez-Peña
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia-Arumi
authors.forename: Ana
authors.initials: A
authors.lastname: Playan
authors.forename: Manuel J
authors.initials: MJ
authors.lastname: Lopez-Perez
authors.forename: Antonio L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000293:Adolescent; D003342:Corpus Striatum / Q000473:pathology*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004421:Dystonia / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009336:Necrosis; D010101:Oxygen Consumption / Q000235:genetics; D017354:Point Mutation; D013997:Time Factors; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D004272:DNA, Mitochondrial