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A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)

✍ Scribed by María D. Herrero-Martín; Mercedes Pineda; Paz Briones; Ester López-Gallardo; Magdalena Carreras; Mercedes Benac; Miguel Angel Idoate; María A. Vilaseca; Rafael Artuch; Manuel J. López-Pérez; Eduardo Ruiz-Pesini; Julio Montoya

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
621 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis

A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1) that fulfils most of the requirements to be pathologic. Despite this subunit is the second longest polypeptide encoded in the mtDNA, only one other missense mutation associated with a myopathy has been described. This suggests that we are missing other phenotypes and that the mitochondrial pathology field is broader that previously thought.

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m.6267G>A: a recurrent mutation in the h
m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors
✍ M. Esther Gallardo; Raquel Moreno-Loshuertos; Celia López; Mercedes Casqueiro; J 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

Complete sequencing of the mitochondrial genome of 13 cell lines derived from a variety of human cancers revealed nine novel mitochondrial DNA (mtDNA) variations. One of them, m.6267G>A, is a recurrent mutation that introduces the Ala122Thr substitution in the mitochondrially encoded cytochrome c ox