Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
case_report · Level V
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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.
Medical subject headings
- Alkyl and Aryl Transferases
- Electron Transport Complex IV
- Leigh Disease
- Membrane Proteins
- Mutation