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Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
Author(s) -
Ugalde Cristina,
Triepels Ralf H.,
Coenen Marieke J.H.,
Van Den Heuvel Lambert P.,
Smeets Roel,
Uusimaa Johanna,
Briones Paz,
Campistol Jaume,
Majamaa Kari,
Smeitink Jan A.M.,
Nijtmans Leo G.J.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10734
Subject(s) - heteroplasmy , missense mutation , mutant , leigh disease , mutation , gene , genetics , biology , microbiology and biotechnology
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.