AI Article Synopsis
- - A patient with severe COX deficiency and recurrent myoglobinuria has a 15-bp microdeletion in a key mitochondrial gene (COX subunit III).
- - The mutant mitochondrial DNA (mtDNA) was predominantly found in muscle (92%) compared to a minimal amount in leukocytes (0.7%).
- - Analysis of muscle fibers showed that COX-negative fibers had significantly more mutant mtDNA, marking the first molecular definition of isolated COX deficiency.
Article Abstract
We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibres revealed significantly higher portions of mutant mtDNA in COX-negative than in COX-positive fibres. This represents the first case of isolated COX deficiency to be defined at the molecular level.
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| http://dx.doi.org/10.1038/ng0496-410 | DOI Listing |
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