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- Title
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
- Authors
Cristina Ugalde; Ralf H. Triepels; Marieke J.H. Coenen; Lambert P. Van Den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A.M. Smeitink; Leo G.J. Nijtmans
- 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.
- Publication
Annals of Neurology, 2003, Vol 54, Issue 5, p665
- ISSN
0364-5134
- Publication type
Article