Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.
De Meirleir
L
L
Department of Pediatric Neurology, AZK-VUB, Brussels, Belgium.
Seneca
S
S
Lissens
W
W
Schoentjes
E
E
Desprechins
B
B
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001264:Athetosis / Q000235:genetics* / Q000473:pathology*; D001483:Base Sequence; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics* / Q000473:pathology*; D003342:Corpus Striatum / Q000473:pathology* / Q000648:ultrastructure; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009336:Necrosis; D010375:Pedigree; D017354:Point Mutation
D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases