Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
SourceAnnals of Neurology, 54, 5, (2003), pp. 665-9
Article / Letter to editor
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Paediatrics - OUD tm 2017
Annals of Neurology
SubjectUMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism; UMCN 5.4: Renal disorders
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.
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