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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
Author(s) -
Coenen Marieke J. H.,
van den Heuvel Lambert P.,
Ugalde Cristina,
ten Brinke Marike,
Nijtmans Leo G. J.,
Trijbels Frans J. M.,
Beblo Skadi,
Maier Esther M.,
Muntau Ania C.,
Smeitink Jan A. M.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20229
Subject(s) - cytochrome c oxidase , mutation , western blot , microbiology and biotechnology , gene , biology , biogenesis , oxidase test , genetics , enzyme , mitochondrion , biochemistry
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