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.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alkyl and Aryl Transferases / genetics*
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Blotting, Western / methods
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Cells, Cultured
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Child, Preschool
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DNA Mutational Analysis / methods
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Electron Transport Complex IV / genetics
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Electron Transport Complex IV / metabolism*
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Electrophoresis, Gel, Two-Dimensional / methods
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Female
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Fibroblasts / metabolism
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Fibroblasts / ultrastructure
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Humans
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Infant
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Leigh Disease / enzymology
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Leigh Disease / genetics*
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Male
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Membrane Proteins / genetics*
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Mitochondria / metabolism
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Mutation / genetics*
Substances
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Membrane Proteins
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COX10 protein, human
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Electron Transport Complex IV
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Alkyl and Aryl Transferases