Ugalde Cristina, Triepels Ralf H, Coenen Marieke J H, van den Heuvel Lambert P, Smeets Roel, Uusimaa Johanna, Briones Paz, Campistol Jaume, Majamaa Kari, Smeitink Jan A M, Nijtmans Leo G J
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734.
We describe a novel mutation in the ND6 gene (T14487C) in a patient with Leigh syndrome. Biochemical analyses indicated a low complex I activity in the patient's fibroblasts but normal values in muscle and liver. Cybrid clones showed a specific complex I defect that correlates with the mutant heteroplasmy levels. Additionally, we demonstrate an altered mobility and a decrease in the levels of fully assembled complex I in the patient's fibroblasts and cybrids, suggesting that the mutation has a profound effect on complex I assembly and/or stability.
我们描述了一名患有 Leigh 综合征患者的 ND6 基因中的一种新型突变（T14487C）。生化分析表明，患者成纤维细胞中的复合体 I 活性较低，但肌肉和肝脏中的值正常。胞质杂种克隆显示出与突变异质性水平相关的特定复合体 I 缺陷。此外，我们证明患者的成纤维细胞和胞质杂种中复合体 I 的迁移率发生改变且完全组装的复合体 I 水平降低，这表明该突变对复合体 I 的组装和/或稳定性有深远影响。
