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A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT‐CO1)
Author(s) -
HerreroMartín María D.,
Pineda Mercedes,
Briones Paz,
LópezGallardo Ester,
Carreras Magdalena,
Benac Mercedes,
Angel Idoate Miguel,
Vilaseca María A.,
Artuch Rafael,
LópezPérez Manuel J.,
RuizPesini Eduardo,
Montoya Julio
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20800
Subject(s) - biology , cytochrome c oxidase , mitochondrial dna , missense mutation , protein subunit , mitochondrial myopathy , phenotype , genetics , mitochondrion , mutation , cytochrome c oxidase subunit i , cytochrome , cytochrome b , microbiology and biotechnology , gene , biochemistry , enzyme
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. © 2008 Wiley‐Liss, Inc.