Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNALeu(CUN) gene [artículo]
Por: Cabello Fernández, Ana [Anatomía Patológica]
| García Silva, María Teresa [Unidad de Enfermedades Metabólicas y Mitocondriales] | Martín Hernández, Elena [Unidad de Enfermedades Metabólicas y Mitocondriales].
Colaborador(es): Servicio de Pediatría-Neonatología | Servicio de Anatomía Patológica.
Editor: Mitochondrion, 2012Descripción: 12(2):288-293.Recursos en línea: Solicitar documento Resumen: We report, for the first time, a patient with an overlap MERRF-NARP syndrome who carries the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. The mutation was heteroplamic and more abundant in her muscle and fibroblast than in blood from her oligosymptomatic mother. Single muscle fiber analysis revealed that the proportion of mutant mtDNA in ragged red fibers was higher than that in normal fibers. Combined defects of mitochondrial respiratory chain complexes were detected in muscle, fibroblasts and transmitochondrial hybrid cells. Significant reduction of total ATP and mitochondrial membrane potential and an increased production of reactive oxygen species were observed.
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Artículo
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Formato Vancouver:
Martín Jiménez R, Martín Hernández E, Cabello A, García Silva MT, Arenas J, Campos Y. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. Mitochondrion. 2012;12(2):288-93.
PMID: 22094595
Contiene 27 referencias
We report, for the first time, a patient with an overlap MERRF-NARP syndrome who carries the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. The mutation was heteroplamic and more abundant in her muscle and fibroblast than in blood from her oligosymptomatic mother. Single muscle fiber analysis revealed that the proportion of mutant mtDNA in ragged red fibers was higher than that in normal fibers. Combined defects of mitochondrial respiratory chain complexes were detected in muscle, fibroblasts and transmitochondrial hybrid cells. Significant reduction of total ATP and mitochondrial membrane potential and an increased production of reactive oxygen species were observed.
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