A MELAS syndrome family harboring two mutations in mitochondrial genome
Experimental & Molecular Medicine
;
: 354-360, 2008.
Artículo
en Inglés
| WPRIM
| ID: wpr-205420
ABSTRACT
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. Neither of these mutations was found in 205 normal controls. Both mutations were identified from the proband and his mother, but not his father. The patients showed cataract symptom in addition to MELAS phenotype. We believe that the 9957T>C mutation is pathogenic, however, the 13849A>C mutation is of unclear significance. It is likely that the 13849A>C mutation might function as the secondary mutation which increase the expressivity of overlapping phenotypes of MELAS and cataract. This study also demonstrates the importance of full sequencing of mtDNA for the molecular genetic understanding of mitochondrial disorders.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Polimorfismo Genético
/
ADN Mitocondrial
/
Análisis Mutacional de ADN
/
Síndrome MELAS
/
Complejo IV de Transporte de Electrones
/
Mutación Missense
/
Proteínas Mitocondriales
/
Complejo I de Transporte de Electrón
/
Pueblo Asiatico
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Experimental & Molecular Medicine
Año:
2008
Tipo del documento:
Artículo
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