Fol. Biol. 2014, 60, 268-274

https://doi.org/10.14712/fb2014060060268

Non-Invasive Screening of Cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay

M. Rodinová, E. Trefilová, T. Honzík, M. Tesařová, J. Zeman, Hana Hansíková

Laboratory for the Study of Mitochondrial Disorders, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic

Received July 2014
Accepted September 2014

References

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. (2006) Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr. Res. 59, 21-26. <https://doi.org/10.1203/01.pdr.0000190572.68191.13>
2. Diaz, F., Fukui, H., Garcia, S., Moraes, C. T. (2006) Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblasts. Mol. Cell. Biol. 26, 4872-4881. <https://doi.org/10.1128/MCB.01767-05>
3. Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E.,Willems, P. H. G. M., Smeitink, J. A. M. (2009) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132, 833-842. <https://doi.org/10.1093/brain/awp058>
4. Goldenthal, M. J., Kuruvilla, T., Damle, S., Salganicoff, L., Sheth, S., Shah, N., Marks, H., Khurana, D., Valencia, I., Legido, A. (2011) Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsy. Mol. Genet. Metab. 105, 457-462. <https://doi.org/10.1016/j.ymgme.2011.11.193>
5. Koenig, M. K. (2008) Presentation and diagnosis of mitochondrial disorders in children. Pediatr. Neurol. 38, 305-313. <https://doi.org/10.1016/j.pediatrneurol.2007.12.001>
6. Kovářová, N., Čížková Vrbacká, A., Pecina, P., Stránecký, V., Pronicka, E., Kmoch, S., Houštěk, J. (2012) Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. Biochim. Biophys. Acta 1822, 1114-1124. <https://doi.org/10.1016/j.bbadis.2012.03.007>
7. Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J. (1951) Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265-275. <https://doi.org/10.1016/S0021-9258(19)52451-6>
8. 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. (2009) SURF1 missense mutations promote a mild Leigh phenotype. Clin. Genet. 76, 195-204. <https://doi.org/10.1111/j.1399-0004.2009.01195.x>
9. Robinson, B. H. (2000) Human cytochrome oxidase deficiency. Pediatr. Res. 48, 581-585. <https://doi.org/10.1203/00006450-200011000-00004>
10. Schagger, H., von Jagow, G. (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal. Biochem. 199, 223-231. <https://doi.org/10.1016/0003-2697(91)90094-A>
11. Stiburek, L., Vesela, K., Hansikova, H., Pecina, P., Tesarova, M., Cerna, L., Houstek, J., Zeman, J. (2005) Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Biochem. J. 392, 625-632. <https://doi.org/10.1042/BJ20050807>
12. Thorburn, D . R. (2004) Mitochondrial disorders: prevalence, myths and advances. J. Inherit. Metab. Dis. 27, 349-362. <https://doi.org/10.1023/B:BOLI.0000031098.41409.55>
13. Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., 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. <https://doi.org/10.1086/302150>
14. Williams, S. L., Valnot, I., Rustin, P., Taanman, J.-W. (2004) Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. J. Biol. Chem. 279, 7462-7469. <https://doi.org/10.1074/jbc.M309232200>
15. Yao, J., Shoubridge, E. A. (1999) Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum. Mol. Genet. 8, 2541-2549. <https://doi.org/10.1093/hmg/8.13.2541>
front cover

ISSN 0015-5500 (Print) ISSN 2533-7602 (Online)

Open access journal

Archive