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01-03-2006 | Original Article

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Authors: Simona Lucioli, Klaus Hoffmeier, Rosalba Carrozzo, Alessandra Tessa, Bernd Ludwig, Filippo M. Santorelli

Published in: Neurogenetics | Issue 1/2006

Abstract

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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Title: Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient
Authors: Simona Lucioli
Klaus Hoffmeier
Rosalba Carrozzo
Alessandra Tessa
Bernd Ludwig
Filippo M. Santorelli
Publication date: 01-03-2006
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2006
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-005-0015-z

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Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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