Article
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
Neurogenetics - 1 Mar 2006
Lucioli Simona, Hoffmeier Klaus, Carrozzo Rosalba, Tessa Alessandra, Ludwig Bernd, Santorelli Filippo M
Abstract excerpt
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 a3. Taking advantage of...
Topics
- Adult
- Animals
- DNA Mutational Analysis
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Humans
- Mutation
- Paracoccus denitrificans
- Phenotype
- Protein Conformation
- Protein Subunits