Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
- 15 October 2003
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 54 (5) , 665-669
- https://doi.org/10.1002/ana.10734
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.Keywords
This publication has 20 references indexed in Scilit:
- Analysis of the Subunit Composition of Complex I from Bovine Heart Mitochondria*SMolecular & Cellular Proteomics, 2003
- Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?Annals of Neurology, 2002
- The energy-transducing NADH: quinone oxidoreductase, complex IMolecular Aspects of Medicine, 2002
- Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathyAnnals of Neurology, 2002
- Leber hereditary optic neuropathyJournal of Medical Genetics, 2002
- Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 geneAnnals of Neurology, 2001
- The genetics and pathology of oxidative phosphorylationNature Reviews Genetics, 2001
- The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathyBrain, 2001
- A Mitochondrial DNA Mutation Cosegregates with the Pathophysiological U WaveBiochemical and Biophysical Research Communications, 1999
- [28] Mitochondria-mediated transformation of human ϱ0 cellsPublished by Elsevier ,1996