A MELAS syndrome family harboring two mutations in mitochondrial genome
Experimental & Molecular Medicine
;
: 354-360, 2008.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Polimorfismo Genético
/
DNA Mitocondrial
/
Análise Mutacional de DNA
/
Síndrome MELAS
/
Complexo IV da Cadeia de Transporte de Elétrons
/
Mutação de Sentido Incorreto
/
Proteínas Mitocondriais
/
Complexo I de Transporte de Elétrons
/
Povo Asiático
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2008
Tipo de documento:
Artigo
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