The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Mitochondrion

Volumn 13, Issue 6, 2013, Pages 810-816

  Pronicka, Ewa ^a   Piekutowska Abramczuk, Dorota ^a   Szymańska Debińska, Tamara ^a   Bielecka, Liliana ^a   Kowalski, Paweł ^a   Łuczak, Sylwia ^a   Karkucińska Wieckowska, Agnieszka ^a   Migdał, Marek ^a   Kubalska, Jolanta ^b   Zimowski, Janusz ^b   Jamroz, Ewa ^c   Wierzba, Jolanta ^d   Sykut Cegielska, Jolanta ^a   Pronicki, Maciej ^a   Zaremba, Jacek ^b   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

^d MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Genotype phenotype correlation; Natural history; Novel mutation; SCO2 gene mutations

Indexed keywords

LACTIC ACID; METHIONINE; PROSTAGLANDIN SYNTHASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; BRAIN ATROPHY; BRAIN DISEASE; CARDIOMEGALY; CEREBELLUM ATROPHY; CHILD; DEATH; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; MISSENSE MUTATION; MITOCHONDRIAL ENCEPHALOPATHY; MUSCLE HYPOTONIA; ONSET AGE; POLAND; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCO2 DEFICIENCY; SCO2 GENE; SMA GENE; SPINAL MUSCULAR ATROPHY; STRIDOR;

GENOTYPE-PHENOTYPE CORRELATION; NATURAL HISTORY; NOVEL MUTATION; OXIDATIVE PHOSPHORYLATION; OXPHOS; SCO2; SCO2 GENE MUTATIONS; SMA; SPINAL MUSCULAR ATROPHY; SYNTHESIS OF COX, CYTOCHROME C OXIDASE;

BASE SEQUENCE; CARRIER PROTEINS; CHILD; DNA; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PHENOTYPE; POLAND;

EID: 84887019394     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.05.007     Document Type: Article

References (35)

1. Bohm M., Pronicka E., Karczmarewicz E., Pronicki M., Piekutowska-Abramczuk D., Sykut-Cegielska J., Mierzewska H., Hansikova H., Vesela K., Tesarova M., Houstkova H., Houstek J., Zeman J. Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr. Res. 2006, 59:21-26.
2. Coenen M.J., Smeitink J.A.M., Pots J.M., van Kaauwen E., Trijbels F.J., Hol F.A., van den Heuvel L.P. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations. J. Child Neurol. 2006, 21:508-511.
3. Darin N., Moslemi A.R., Lebon S., Rustin P., Holme E., Oldfors A., Tulinius M. Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency. Neuropediatrics 2003, 34:311-317.
4. Freisinger P., Horwath R., Macmillan C., Peters J., Jaksch M. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?. J. Inherit. Metab. Dis. 2004, 27:67-79.
5. Guenther U.P., Varon R., Schlicke M., Dutrannoy V., Volk A., Hübner C., von Au K., Schuelke M. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum. Mutat. 2007, 28:808-815.
6. Jaksch M., Ogilvie I., Yao J., Kortenhaus G., Bresser H.G., Gerbitz K.D., Shoubridge E.A. Mutations in SCO2 are associated with distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum. Mol. Genet. 2000, 9:795-801.
7. Jaksch M., Paret C., Stucka R., Horn N., Müller-Höcker J., Horvath R., Trepesch N., Stecker G., Freisinger P., Thirion C., Müller J., Lunkwitz R., Rödel G., Shoubridge E.A., Lochmüller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum. Mol. Genet. 2001, 10:3025-3035.
8. Jaksch M., Horvath R., Horn N., Auer D.P., Macmillan C., Peters J., Gerbitz K.D., Kraegeloh-Mann I., Muntau A., Karcagi V., Kalmanchey R., Lochmuller H., Shoubridge E.A., Freisinger P. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001, 57:1440-1446.
9. Joost K., Rodenburg R., Piirsoo A., van den Heuvel B., Zordania R., Ounap K. A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr. Neurol. 2010, 42:227-230.
10. Karczmarewicz E., Bielecka L., Kulczycka H., Lorenc L.S., Pronicka E. Analytical reliability of spectrophotometric analysis of the activity of mitochondrial respiratory chain complexes in muscle homogenates. Diagn. Lab. 1997, 33:495-503.
11. Knuf M., Faber J., Huth R.G., Freisinger P., Zepp F., Kampmann C. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. Acta Paediatr. 2007, 96:130-132.
12. Leary S.C., Kaufman B.A., Pellecchia G., Guercin G.H., Mattman A., Jaksch M., Shoubridge E.A. Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Hum. Mol. Genet. 2004, 13:1839-1848.
13. Leary S.C., Mattman A., Wai T., Koehn D.C., Clarke L.A., Chan S., Lomax B., Eydoux P., Vallance H.D., Shoubridge E.A. A hemizygous SCO2 mutation in an early onset of rapidly progressive, fatal cardiomyopathy. Mol. Genet. Metab. 2006, 89:129-133.
14. Matoba S., Kang J.G., Patino W.D., Wragg A., Boehm M., Gavrilova O., Hurley P.J., Bunz F., Hwang P.M. p53 regulates mitochondrial respiration. Science 2006, 312:1650-1653.
15. Matyja E., Pronicki M., Kowalski P., Czarnowska E., Taybert J. Remodeling of skeletal muscle cells in children with SCO2 gene mutations - ultrastructure study. Folia Neuropathol. 2009, 47:20-32.
16. Mauro C., Leow S.C., Anso E., Rocha S., Thotakura A.K., Tornatore L., Moretti M., De Smaele E., Beg A.A., Tergaonkar V., Chandel N.S., Franzoso G. NF-κB controls energy homeostasis and metabolic adaptation by upregulating mitochondrial respiration. Nat. Cell Biol. 2011, 13(10):1272-1279.
17. Mobley B.C., Enns G.M., Wong L.J., Vogel H. A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. Clin. Neuropathol. 2009, 28:143-149.
18. Morava E., van den Heuvel L., Hol F., de Vries M.C., Hogeveen M., Rodenburg R.J., Smeitink J.A. Mitochondrial disease criteria. Diagnostic applications in children. Neurology 2006, 67:1823-1826.
19. Nagy A., Szever Z., Kormos Z., Székely E., Tóth E., Smidéliusz L., Horváth R., Karcagi V., Schuler A., Jávorszky E. Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease). Ideggyogy. Sz. 2008, 61:417-422. (Article in Hungarian).
20. Papadopoulou L.C., Sue C.M., Davidson M.M., Tanji K., Nishino I., Sadlock J.E., Krishna S., Walker W., Selby J., Glerum D.M., Coster R.V., Lyon G., Scalais E., Lebel R., Kaplan P., Shanske S., De Vivo D.C., Bonilla E., Hirano M., DiMauro S., Schon E.A. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat. Genet. 1999, 23:333-337.
21. Piekutowska-Abramczuk D., Magner M., Popowska E., Pronicki M., Karczmarewicz E., Sykut-Cegielska J., Kmiec T., Jurkiewicz E., Szymanska-Debinska T., Bielecka L., Krajewska-Walasek M., Vesela K., Zeman J., Pronicka E. SURF1 missense mutations promote a mild Leigh phenotype. Clin. Genet. 2009, 76:195-204.
22. Pronicki M., Matyja E., Piekutowska-Abramczuk D., Szymanska-Debinska T., Karkucinska-Wieckowska A., Karczmarewicz E., Grajkowska W., Kmiec T., Popowska E., Sykut-Cegielska J. Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease. J. Clin. Pathol. 2008, 61:460-466.
23. Pronicki M., Kowalski P., Piekutowska-Abramczuk D., Taybert J., Karkucinska-Wieckowska A., Szymanska-Debinska T., Karczmarewicz E., Pajdowska M., Migdal M., Milewska-Bobula B., Sykut-Cegielska J., Popowska E. A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur. J. Paediatr. Neurol. 2010, 14:253-260.
24. Robinson B.H. Human cytochrome oxidase deficiency. Pediatr. Res. 2000, 48:581-585.
25. Sacconi S., Salviati L., Sue C.M., Shanske S., Davidson M.M., Bonilla E. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr. Res. 2003, 53:224-230.
26. Salviati L., Sacconi S., Rasalan M.M., Kronn D.F., Braun A., Canoll P., Davidson M., Shanske S., Bonilla E., Hays A.P., Schon E.A., DiMauro S. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch. Neurol. 2002, 59:862-865.
27. Sambuughin N., Liu X., Bijarnia S., Wallace T., Verma I.C., Hamilton S., Muldoon S., Tallon L.J., Wang S. Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia. J. Hum. Genet. Jan 31 2013, (Epub ahead of print). 10.1038/jhg.2012.156.
28. Stiburek L., Vesela K., Hansikova H., Pecina P., Tesarova M., Cerna L., Houstek J., Zeman J. Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Biochem. J. 2005, 392:625-632.
29. Sue C.M., Karadimas C., Checcarelli N., Tanji K., Papadopoulou L.C., Pallotti F., Guo F.L., Shanske S., Hirano M., De Vivo D.C., Van Coster R., Kaplan P., Bonilla E., DiMauro S. Differential features of patients with mutations in two COX assembly genes, SURF1 and SCO2. Ann. Neurol. 2000, 47:589-595.
30. Tanji K., Bonilla E. Neuropathological aspects of cytochrome c oxidase deficiency. Brain Pathol. 2000, 10:422-430.
31. Tarnopolsky M.A., Bourgeois J.M., Fu M.H., Kataeva G., Shah J., Simon D.K., Mahoney D., Johns D., MacKay N., Robinson B.H. Novel SCO2 mutation (G1541A) presenting as a spinal muscular atrophy type I phenotype. Am. J. Med. Genet. 2004, 125A:310-314.
32. Tay S.K., Shanske A., Kaplan P., DiMauro S. Association of mutations in SCO2, a cytochrome c oxidase assemble gene, with early fetal lethality. Arch. Neurol. 2004, 61:950-952.
33. Verdijk R.M., de Krijger R., Schoonderwoerd K., Tiranti V., Smeets H., Govaerts L.C., de Coo R. Phenotypic consequences of a novel SCO2 gene mutation. Am. J. Med. Genet. 2008, 146A:2822-2827.
34. Vesela K., Hansikova H., Tesarova M., Martasek P., Elleder M., Houstek J., Zeman J. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr. 2004, 93:1312-1317.
35. Vesela K., Hulkova H., Hansikova H., Zeman J., Elleder M. Structural analysis of tissues affected by cytochrome c oxidase deficiency due to mutations in the SCO2 gene. APMIS 2008, 116:41-49.