De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B
Department of Pediatric Neurology, AZK-VUB, Brussels, Belgium.
Pediatr Neurol. 1995 Oct;13(3):242-6. doi: 10.1016/0887-8994(95)00184-h.
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.
报道了一名患有双侧纹状体病变的2.5岁男孩。通过聚合酶链反应-单链构象多态性分析和直接DNA测序，在线粒体DNA（mtDNA）的8851核苷酸处鉴定出一个新的点突变（T到C）。该突变使mtATPase基因亚基6中一个高度保守的色氨酸变为精氨酸。该突变几乎是纯合的且为母系遗传。这是双侧纹状体变性中线粒体DNA突变的首次发表报告。双侧纹状体变性的其他病例可能是由mtATPase 6基因或编码mtATPase其他亚基的基因突变引起的；因此，对于患有这种疾病的儿童，应该检测mtATPase基因。
