SURFEIT-1 Gene Analysis and Two-Dimensional Blue Native Gel Electrophoresis in Cytochrome c Oxidase Deficiency

Leigh syndrome, a progressive, often fatal, neurodegenerative disorder, is frequently associated with a deficiency in the activity of cytochrome c oxidase (COX), the last enzyme of the mitochondrial respiratory chain. In contrast to NADH:ubiquinone oxidoreductase and succinate dehydrogenase deficien...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1999-11, Vol.265 (2), p.339-344
Main Authors: Coenen, Marieke J.H., van den Heuvel, Lambert P., Nijtmans, Leo G.J., Morava, Eva, Marquardt, I., Girschick, Hermann J., Trijbels, Frans J.M., Grivell, Leslie A., Smeitink, Jan A.M.
Format: Article
Language:English
Subjects:
Base Sequence
Child, Preschool
Cytochrome-c Oxidase Deficiency
DNA - genetics
DNA - isolation & purification
DNA Mutational Analysis
DNA Primers - genetics
Electron Transport Complex IV - genetics
Electron Transport Complex IV - isolation & purification
Electrophoresis, Gel, Two-Dimensional
Female
Humans
Infant
Leigh Disease - diagnosis
Leigh Disease - enzymology
Leigh Disease - genetics
Male
Membrane Proteins
Mitochondrial Proteins
Point Mutation
Proteins - genetics
Proteins - isolation & purification
Sequence Deletion
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Summary:Leigh syndrome, a progressive, often fatal, neurodegenerative disorder, is frequently associated with a deficiency in the activity of cytochrome c oxidase (COX), the last enzyme of the mitochondrial respiratory chain. In contrast to NADH:ubiquinone oxidoreductase and succinate dehydrogenase deficiencies, no mutations in nuclear genes encoding COX subunits have been identified thus far. Very recently, however, a Leigh syndrome complementation group has been identified which showed mutations in the SURFEIT-1 (SURF-1) gene. The results of a mutational detection study in 16 new randomly selected COX-deficient patients revealed a new mutation (C688T) in 2 patients and the earlier reported 845delCT mutation in 2 additional patients. In addition, we evaluated the diagnostic value of two-dimensional blue native gel electrophoresis. We show that this technique reveals distinct patterns of both fully and partially assembled COX complexes and is thereby capable of discrimination between COX-deficient SURF-1 and non-SURF-1-mutated patients.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1999.1662