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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

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands

Jan A.M. Smeitink, MD, PhD

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands, J.Smeitink{at}cukz.umcn.n

Jeanette M. Pots, BSc

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands

Edwin van Kaauwen, BSc

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands

Frans J.M. Trijbels, PhD

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands

Frans A. Hol, PhD

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

Lambert P. van den Heuvel, PhD

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, the Neterlands

The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear genome. Patients with an isolated complex IV deficiency frequently harbor mutations in nuclear genes encoding for proteins necessary for the assembly of the complex. Strikingly, until now, no mutations have been detected in the nuclear encoded structural subunits of complex IV in these patients. We report the results of a mutational analysis study in patients with isolated complex IV deficiency screened for mutations in all structural genes as well as assembly genes known to cause complex IV deficiency. Four patients carried mutations in the complex IV assembly gene SURF1. One patient harbored a mutation in the COX10 gene involved in heme A synthesis. Mutations in the 10 nuclear encoded structural genes were not present. (J Child Neurol 2006;21:508—511; DOI 10.2310/7010.2006.00136).

Journal of Child Neurology, Vol. 21, No. 6, 508-511 (2006)
DOI: 10.1177/08830738060210062501


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