Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Nature Genetics

Volumn 23, Issue 3, 1999, Pages 333-337

  Papadopoulou, Lefkothea C ^a   Sue M, Carolyn ^b   Davidson, Mercy M ^b   Tanji, Kurenai ^b   Nishino, Ichizo ^b   Sadlock, James E ^b   Krishna, Sindu ^b   Walker, Winsome ^b   Selby, Jeanette ^b   Glerum, D Moira ^c   Van Coster, Rudy ^d   Lyon, Gilles ^d   Scalais, Emmanuel ^e   Lebel, Roger ^f   Kaplan, Paige ^g   Shanske, Sara ^b   De Vivo, Darryl C ^b   Bonilla, Eduardo ^b   Hirano, Michio ^b   DiMauro, Salvatore ^b   Schon, Eric A ^b   more..

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e Clinique Saint Vincent   (Belgium)

^f Genetics Services Inc   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MITOCHONDRIAL MEMBRANE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; YEAST;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARDIOMYOPATHIES; CARRIER PROTEINS; CLONING, MOLECULAR; CONSERVED SEQUENCE; CYSTEINE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISOENZYMES; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOCARDIUM; NEUROMUSCULAR DISEASES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS; RNA, MESSENGER; SACCHAROMYCES CEREVISIAE PROTEINS;

MAMMALIA;

EID: 0032699506     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/15513     Document Type: Article

References (29)

1. Michel, H., Behr, J., Harrenga, A. & Kannt, A. Cytochrome c oxidase: structure and spectroscopy. Annu. Rev. Biophys. Biomol. Struct. 27, 329-356 (1998).
2. Pel, H.J., Tzagoloff, A. & Grivell, L.A. The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1. Curr. Genet 21, 139-146 (1992).
3. Glerum, D.M. & Tzagoloff, A. Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. Prot. Natl Acad. Sci. USA 91, 8452-8456 (1994).
4. Petruzzella, V. et al. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 15, 494-504 (1998).
5. Amaravadi, R., Glerum, D.M. & Tzagoloff, A. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum. Genet. 99, 329-333 (1997).
6. - mutation in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA 91, 11978-11982 (1994).
7. Schon, E.A., Bonilla, E. & DiMauro, S. Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr. 29, 131-149 (1997).
8. DiMauro, S. et al. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology 30, 795-804(1980).
9. DiMauro, S. et al. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann. Neurol. 14, 226-234 (1983).
10. Lombes, A. et al. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 41, 491-498 (1991).
11. DiMauro, S., Hirano, M., Bonilla, E., Moraes, C.T. & Schon, E.A. Cytochrome oxidase deficiency: progress and problems. in Mitochondrial Disorders in Neurology (eds Schapira, A.H.V. & DiMauro, S.) 91-115 (Butterworth-Heinemann, Oxford, 1994).
12. Adams, P.L., Lightowlers, R.N. & Turnbull, D.M. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann. Neurol. 41, 268-270 (1997).
13. (Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J. Med. Genet. 35, 895-900 (1998).
14. Zhu, Z. et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet. 20, 337-343(1998).
15. Tiranti, V. et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet 63, 1609-1621 (1998).
16. Buchwald, P., Krummeck, G. & Rödel, G. Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane. Mol. Gen. Genet. 229, 413-420 (1991).
17. Schulze, M. & Rödel, G. SCO1, a yeast nuclear gene essential for accumulation of mitochondrial cytochrome c oxidase subunit II. Mol. Gen. Genet. 211, 492-498 (1988).
18. Schulze, M. & Rödel, G. Accumulation of the cytochrome c oxidase subunits I and M in yeast requires a mitochondrial membrane-associated protein, encoded by the nuclear SCO1 gene. Mol. Gen. Genet. 216, 37-43 (1989).
19. Krummeck, G. & Rödel, G. Yeast SCO1 protein is required for a post-translational step in the accumulation of mitochondrial cytochrome c oxidase subunits I and II. Curr. Genet. 1B, 13-15 (1990).
20. Glerum, D.M., Shtanko, A. & Tzagoloff, A. SCO1 and SC02 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae. J. Biol. Chem. 271, 20531-20535 (1996).
21. Glerum, D.M., Shtanko, A. & Tzagoloff, A. Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J. Biol. Chem. 271, 14504-14509 (1996).
22. Rentzsch, A. et al. Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase. Curr. Genet. 35, 103-108 (1999).
23. McEwen, J.E., Ko, C., Kloeckner-Gruissem, B. & Poyton, R.O. Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. J. Biol. Chem. 261, 11872-11879 (1986).
24. DiMauro, S. et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann. Neurol. 22, 498-506 (1987).
25. Merante, F. et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am. J. Hum. Genet. 53, 481-487 (1993).
26. Taanman, J.-W., Herzberg, N.H., De Vries, H., Bolhuis, P.A. & Van den Bogert, C. Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms. Biochim. Biophys. Acta 1139, 155-162 (1992).
27. Preiss, T. & Lightowlers, R.N. Post-transcriptional regulation of tissue-specific isoforms. A bovine cytosolic RNA-binding protein, COLBP, associates with messenger RNA encoding the liver-form isopeptides of cytochrome c oxidase. J. Biol. Chem. 268, 10659-10667 (1993).
28. Paret, C., Ostermann, K., Krause-Buchholz, U., Rentzsch, A. & Rödel, G. Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization. FEBS Lett. 447, 65-70 (1999).
29. Sciacco, M. & Bonilla, E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol. 264, 509-521 (1996).