Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.
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.
Solano
Abelardo
A
Departamento de Bioquímica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.
Roig
Manuel
M
Vives-Bauza
Cristofol
C
Hernandez-Peña
Jose
J
Garcia-Arumi
Elena
E
Playan
Ana
A
Lopez-Perez
Manuel J
MJ
Andreu
Antonio L
AL
Montoya
Julio
J
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
D004272:DNA, Mitochondrial