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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

✍ Scribed by Marieke J. H. Coenen; Lambert P. van den Heuvel; Cristina Ugalde; Marike ten Brinke; Leo G. J. Nijtmans; Frans J. M. Trijbels; Skadi Beblo; Esther M. Maier; Ania C. Muntau; Jan A. M. Smeitink

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 264 KB
Volume: 56
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20229

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✦ Synopsis

Abstract

We report a cytochrome c oxidase (COX)–deficient patient, clinically affected with Leigh‐like disease, with a homozygous mutation in the COX10 start codon. Two‐dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of these subunits in this patient compared with control. Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause. Ann Neurol 2004;56:560–564

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