Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

Annals of Neurology

Volumn 47, Issue 5, 2000, Pages 589-595

  Sue, C M ^a   Karadimas, C ^a   Checcarelli, N ^a   Tanji, K ^a   Papadopoulou, L C ^b   Pallotti, F ^a   Guo, F L ^a   Shanske, S ^a   Hirano, M ^a   De Vivo, D C ^a   Van Coster, R ^c   Kaplan, P ^d   Bonilla, E ^a   DiMauro, S ^a  

^a The New York Presbyterian Hospital   (United States)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; GENE PRODUCT; SCO 2 PROTEIN; SURF 1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; LEIGH DISEASE; MALE; MITOCHONDRIAL RESPIRATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; BIOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUSCLE, SMOOTH; MUTATION; PHENOTYPE; PROTEINS;

EID: 0034015368     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200005)47:5<589::AID-ANA6>3.0.CO;2-D     Document Type: Article

References (27)

1. Michel H, Behr J, Harrenga A, Kannt A. Cytochrome c oxidase: Structure and spectroscopy. Annu Rev Biophys Biomol Struct 1998;27:329-356
2. Keightley J, Hoffbuhr K, Burton M, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996;12: 410-415
3. Hanna M, Nelson I, Rahman S, et al. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 1998;63:29-36
4. Gatterman N, Retzlaff S, Wang Y, et al. Heteroplasmic point mutation of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 1997;90:4961-4972
5. Manfredi G, Schon E, Moraes C, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-encoding gene. Neuromusc Disord 1995;5:391-398
6. Comi G, Bordoni A, Salani S, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 1998;43:110-116
7. Clark K, Taylor R, Johnson M, et al. An mtDNA mutation in the initiation codon of the cytochrome c oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalopathy. Am J Hum Genet 1999;64:1330-1339
8. Bruno C, Martinuzzi A, Tang Y, et al. A stop-codon mutation in the human mtDNA cytochrome c oxidase 1 gene disrupts the functional structure of complex IV. Am J Hum Genet 1999; 65:611-620
9. Lombes A, Nakase H, Tritscher H-J, et al. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 1991;41:491-498
10. DiMauro S, Hirano M, Bonilla E, et al. Cytochrome c oxidase deficiency: progress and problems. In: Shapira A, DiMauro S, eds. Mitochondrial disorders in neurology. Oxford: Butterworth-Heinemann, 1994:91-115
11. Adams P, Lightowlers R, Turnbull D. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997;41:268-270
12. Ser(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 1998;35:895-900
13. Rahman S, Blok R, Dahl H-H, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351
14. Van Coster R, Lombes A, DeVivo D, et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurosci 1991;104:97-111
15. Sciacco M, Bonilla E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. In: Attardi G, Chomyn A, eds. Methods in enzymology. Vol 264. New York: Academic Press, 1996:509-521
16. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506
17. De Vivo D, Hammond M, Obert K, Nelson J, Pagliara A. Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyopathy (Leigh disease). Ann Neurol 1979;6:483-494
18. 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
19. Tiranti V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999; 46:161-166
20. Papadopoulou LC, Sue CM, Davidson M, et al. Fatal infantile cardioencephalomyopathy with cytochrome c oxidase (COX) deficiency and mutations in SCO2, a human COX assembly gene. Nat Genet 1999;23:333-337
21. Santorelli F, Shanske S, Jain K, et al. AT→C mutation at nt8993 of mitochondria DNA in a child with Leigh syndrome. Neurology 1994;44:972-974
22. Santorelli F, Shanske S, Macaya A, et al. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834
23. De Vivo D, Hirano M, DiMauro S. Mitochondrial disorders. In: Moser H, ed. Handbook of clinical neurology. Vol 22, New York: Elsevier Science, 1996:389-446
24. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome oxidase deficiency. Am J Hum Genet 1998;63:1609-1621
25. Glerum D, Shtanko A, Tzagoloff A. SCO1 and SCO2 act as high copy suppressors of mitochondrial copper recruitment defect in Saccharomyces cerevisae. J Biol Chem 1996;271:20531-20535
26. Munaro M, Tiranti V, Sandona D, et al. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 1997;6: 221-228
27. Lennard A, Gaston K, Fried M. The SURF-1 and SURF-2 genes and their essential bidirectional promotor elements are conserved between mouse and human. DNA Cell Biol 1994; 13:1117-1126