A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
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.
Herrero-Martín
María D
MD
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza.
Pineda
Mercedes
M
Briones
Paz
P
López-Gallardo
Ester
E
Carreras
Magdalena
M
Benac
Mercedes
M
Angel Idoate
Miguel
M
Vilaseca
María A
MA
Artuch
Rafael
R
López-Pérez
Manuel J
MJ
Ruiz-Pesini
Eduardo
E
Montoya
Julio
J
D000293:Adolescent; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D015444:Exercise; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009132:Muscles / Q000473:pathology; D009154:Mutation; D010641:Phenotype
D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV