Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Annals of Neurology

Volumn 56, Issue 4, 2004, Pages 560-564

  Coenen, Marieke J H ^a   Van Den Heuvel, Lambert P ^a   Ugalde, Cristina ^a   Brinke, Marike Ten ^a   Nijtmans, Leo G J ^a   Trijbels, Frans J M ^a   Beblo, Skadi ^b   Maier, Esther M ^b   Muntau, Ania C ^b   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C; CYTOCHROME C OXIDASE;

ARTICLE; BIOGENESIS; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME SUBUNIT; FIBROBLAST; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; TWO DIMENSIONAL GEL ELECTROPHORESIS; WESTERN BLOTTING;

ALKYL AND ARYL TRANSFERASES; BLOTTING, WESTERN; CELLS, CULTURED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; FIBROBLASTS; HUMANS; INFANT; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIA; MUTATION;

EID: 4844221997     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20229     Document Type: Article

References (19)

1. Yano T. The energy-transducing NADH: quinone oxidoreductase, complex I. Mol Aspects Med 2002;23:345-368.
2. Ackrell BA. Cytopathies involving mitochondrial complex II. Mol Aspects Med 2002;23:369-384.
3. Haut S, Brivet M, Touati G, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 2003;113:118-122.
4. Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-343.
5. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609-1621.
6. Valnot I, Osmond S, Gigatel N, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000;67:1104-1109.
7. Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999;23:333-337.
8. Valnot I, von Kleist-Retzow JC, Barrientos A, et al. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 2000;9:1245-1249.
9. Antonicka H, Leary SC, Guetcin GH, et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account fot multiple, eatly-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 2003;12:2693-2702.
10. Antonicka H, Mattman A, Carlson CG, et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing eatly-onset fatal hypettrophic cardiomyopathy. Am J Hum Genet 2003;72:101-114.
11. Mootha VK, Lepage P, Miller K, et al. Identification of a gene causing human cytochtome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A 2003;100:605-610.
12. Paret C, Lode A, Krause-Buchholz U, Rodel G. The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase. Biochem Biophys Res Commun 2000;279:341-347.
13. Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000;47:589-595.
14. Bentlage H, de Coo R, ter Laak H, et al. Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. Eur J Biochem 1995;227:909-915.
15. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
16. Capaldi RA, Marusich MF, Taanman JW. Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells. Methods Enzymol 1995;260:117-132.
17. Srere PA. Citrate synthase. Methods Enzymol 1969;13:3-26.
18. Nijtmans LG, Henderson NS, Holt IJ. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 2002;26:327-334.
19. Schagger H, von Jagow G. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 1987;166:368-379.