Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L
Department of Metabolism, Ospedale Bambino Gesù IRCCS, Rome, Italy.
J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996.
We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.
我们报告了一个意大利家庭，其中线粒体三磷酸腺苷合成酶（mtATPase）6基因第9176位核苷酸的T到C点突变，分别与一名儿童的早发性暴发性 Leigh 综合征以及两名兄弟姐妹的意外猝死有关。聚合酶链反应单链构象多态性（PCR-SSCP）分析和直接测序显示，该突变在先证者的线粒体DNA中是纯质的。T9176C突变使mtATPase基因亚基6中一个高度保守的亮氨酸变为脯氨酸，且该突变是母系遗传的，但母系亲属无症状。这一点突变最初在两名患有双侧纹状体坏死（Leigh综合征的一种较温和变体）的兄弟中被描述。
