Mutation screening in patients with isolated cytochrome c oxidase deficiency

Pediatric Research

Volumn 53, Issue 2, 2003, Pages 224-230

  Sacconi, Sabrina ^a,b   Salviati, Leonardo ^a,c   Sue, Carolyn M ^a   Shanske, Sara ^a   Davidson, Mercy M ^a   Bonilla, Eduardo ^a   Naini, Ali B ^a   De Vivo, Darryl C ^a   DiMauro, Salvatore ^a  

^a Columbia Univ Coll of Phys/Surgs ^*  (United States)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CYTOCHROME C OXIDASE DEFICIENCY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INFANT; LEIGH DISEASE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE;

EID: 0037315780     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200302000-00005     Document Type: Article

References (40)

1. Michel H, Behr J, Harrenga A, Kannt A 1998 Cytochrome c oxidase: structure and spectroscopy. Ann Rev Biophys Biomol Struct 27:329-356
2. Shoubridge EA 2001 Cytochrome c oxidase deficiency. Am J Med Genet 106:46-52
3. Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A 2000 Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104-1109
4. Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J. Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M. DiMauro S, Schon EA 1999 Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene. Nat Genet 23:333-337
5. Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A 2000 A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 9:1245-1249
6. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343
7. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621
8. Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S 2000 Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 47:589-595
9. DiMauro S, Servidei S, Zeviani M, DiRocco M, De Vivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD, Johnson PC 1987 Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506
10. Sciacco M, Bonilla E 1996 Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol 264:509-521
11. Sambrook J, Russel DW 2001 Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press. Cold Spring Harbor, NY, pp. 6.4-6.11
12. Rieder MJ, Taylor SL, Tobe V, Nickerson DA 1998 Automatic identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 26:967-973
13. Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S 2000 Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology 55:644-649
14. DiMauro S, Bonilla E, Davidson M, Hirano M, Schon EA 1998 Mitochondria in neuromuscular disorders. Biochim Biophys Acta 1366:199-210
15. Campos Y, Garcia-Redondo A, Fernandez-Moreno MA, Martinez-Pardo M, Goda G, Rubio JC, Martin MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J 2001 Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene. Ann Neurol 50:409-413
16. Glerum DM, Tzagoloff A 1994 Isolation of a human CDNA for heme A:farnesyltransferase by functional complementation of a yeast cox 10 mutant. Proc Natl Acad Sci U S A 91:8452-8456
17. Amaravadi R, Glerum DM, Tzagoloff A 1997 Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum Genet 99:329-333
18. Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M 1998 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 54:494-504
19. Dickinson EK, Adams DL, Schon EA, Glerum DM 2000 A human SCO2 mutation helps define the role of Scolp in the cytochrome oxidase assembly pathway. J Biol Chem 275:26780-26785
20. Hiser L, Di Valentin M, Hamer AG, Hosler JP 2000 Cox11p is required for stable formation of the Cu(B) and magnesium centers of cytochrome c. J Biol Chem 275:619-623
21. Barros MH, Carlson CG, Glerum DM, Tzagoloff A 2001 Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O. FEBS Lett 492:133-138
22. Nijtmans LG, Artal Sanz M, Bucko M, Farhoud MH, Feenstra M, Hakkaart GA, Zeviani M, Grivell LA 2001 Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast. FEBS Lett 498:46-51
23. Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C 2001 Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat 17:374-381
24. Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK 2001 A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 49:797-800
25. Von Kleist-Retzow JC, Yao J, Taanman JW, Chantrel K, Chretien D, Cormier-Daire V, Rötig A, Munnich A, Rustin P, Shoubridge EA 2001 Mutations in SURF1 are not specifically associated with Leigh syndrome. J Med Genet 38:109-113
26. Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA 2000 Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 9:795-801
27. Jaksch M, Horvath R, Horn N, Muller-Hocker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Muller J, Lunkwitz R, Rodel G, Shoubridge EA, Lochmuller H 2001 Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 57:1440-1446
28. Salviati L, Sacconi S, Rasalam M, Kron DF, Braun A, Davidson M, Bonilla E, Shanske S, Canoll P, Hays AP, Schon EA, DiMauro S 2002 Cytochrome oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol 59:862-865
29. Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Muller-Hocker J, Jedele KB, Meitinger T, Gerbitz KD 1998 A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 35:895-900
30. Adams PL, Lightowlers RN, Turnbull DM 1997 Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 41:268-270
31. Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M 2000 Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun 276:530-533
32. Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Luili L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T 1999 Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46:161-166
33. Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA 1999 SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun 265:339-344
34. Brown RM, Brown GK 1996 Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 19:752-760
35. Munaro M, Tiranti V, Sandona D, Lamantea E, Uziel G, Bisson R, Zeviani M 1997 A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 6:221-228
36. Williams SL, Taanman JW, Hansikova H, Houst'kova H, Chowdhury S, Zeman J, Houstek J 2001 A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Mol Genet Metab 73:340-343
37. Pequignot MO, Desguerre I, Dey R, Tartari M. Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M, Marsac C 2001 New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276:15326-15329
38. Lee N, Daly MJ, Delmonte T, Lander ES, Xu F, Hudson TJ, Mitchell GA, Morin CC, Robinson BH, Rioux JD 2001 A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet 68:397-409
39. Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M 1999 Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet 8:2533-2540
40. Yao J, Shoubridge EA 1999 Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 8:2541-2549