The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.
J Med Genet
; 43(7): e38, 2006 Jul.
Article
en En
| MEDLINE
| ID: mdl-16816025
ABSTRACT
BACKGROUND:
Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot.OBJECTIVE:
To identify the mtDNA defect in a family with a prevalent ocular phenotype, including LHON-like optic neuropathy, retinopathy, and cataract, but characterised also by strokes, early deaths, and miscarriages on the maternal line.RESULTS:
Sequencing of the entire mitochondrial genome from the proband's muscle DNA identified the heteroplasmic 13042G-->A transition, which was previously described only once in a patient with a different mitochondrial disease. This mutation fulfils the major pathogenic criteria, inducing an amino acid change (A236T) at an invariant position in a highly conserved domain of the ND5 gene. Phosphorus magnetic resonance spectroscopy in the proband disclosed an in vivo brain and skeletal muscle energy metabolism deficit.CONCLUSIONS:
These findings conclusively establish the pathogenic role of the 13042G-->A mutation and underscore its variable clinical expression.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Polimorfismo de Nucleótido Simple
/
Oftalmopatías
Tipo de estudio:
Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Idioma:
En
Revista:
J Med Genet
Año:
2006
Tipo del documento:
Article