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

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

  • Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734.
Cristina Ugalde 1,  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
Affiliations

Affiliation

  • 1 Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. c.ugalde@cukz.umcn.nl
PMID: 14595656 DOI: 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.

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