Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2000263 | Molecular Genetics and Metabolism | 2007 | 5 Pages |
Abstract
We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient’s fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mitochondrial genetic origin of the disease. The mutation leads to a L71P substitution at an evolutionary conserved amino acid stretch. By two-dimensional blue native electrophoresis (2D-BN–SDS–PAGE), decreased complex I levels were observed together with an accumulation of specific assembly intermediates, suggesting that the mutation disturbs the complex I assembly pathway.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Cristina Ugalde, Reetta Hinttala, Sharita Timal, Roel Smeets, Richard J.T. Rodenburg, Johanna Uusimaa, Lambert P. van Heuvel, Leo G.J. Nijtmans, Kari Majamaa, Jan A.M. Smeitink,