Journal
NEUROGENETICS
Volume 7, Issue 1, Pages 51-57Publisher
SPRINGER
DOI: 10.1007/s10048-005-0015-z
Keywords
cytochrome c oxidase; MELAS; mtDNA mutation; bacterial model; Paracoccus denitrificans
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We identified a novel mutation (S142F) in the human mtDNA CO I gene in a patient with a clinical phenotype resembling mitochondrial cardioencephalomyopathy. To substantiate pathogenicity, we modeled the identified mutation in the homologous gene in Paracoccus denitrificans and analyzed the biochemical consequences. We observed a deleterious effect on enzyme activity, with a lack of heme a (3) . Taking advantage of the extensive structural homology between the bacterial enzyme and the mammalian core complex, we conclude that the novel S142F mutation is disease-related. This approach can be used in other cases to support the pathogenicity of novel variants in the mitochondrial genome.
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