TY - JOUR
T1 - SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency
AU - Coenen, Marieke J.H.
AU - Van Den Heuvel, Lambert P.
AU - Nijtmans, Leo G.J.
AU - Morava, Eva
AU - Marquardt, I.
AU - Girschick, Hermann J.
AU - Trijbels, Frans J.M.
AU - Grivell, Leslie A.
AU - Smeitink, Jan A.M.
N1 - Funding Information:
This study was supported by a grant from the “Prinses Beatrix Fonds,” The Netherlands (Grant 98-0108). We thank Antoon Jans-sen and Frans van den Brand for technical assistance.
PY - 1999/11/19
Y1 - 1999/11/19
N2 - 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.
AB - 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.
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U2 - 10.1006/bbrc.1999.1662
DO - 10.1006/bbrc.1999.1662
M3 - Article
C2 - 10558868
AN - SCOPUS:0033585059
SN - 0006-291X
VL - 265
SP - 339
EP - 344
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -