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Ann Neurol. 2003 Nov;54(5):665-9.

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

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  • 1Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. c.ugalde@cukz.umcn.nl

Abstract

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.

PMID:
14595656
[PubMed - indexed for MEDLINE]
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