Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS / 中华医学杂志(英文版)
Chinese Medical Journal
; (24): 995-997, 2002.
Article
em En
| WPRIM
| ID: wpr-340401
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To search for A3243G point mutations in mitochondrial DNA (mtDNA) from 10 cases of mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS).</p><p><b>METHODS</b>Using PCR-restriction analysis, we investigated A3243G point mutations in mtDNA of muscle and/or blood cells from 10 patients and their 8 maternal relatives. We also quantitated the A3243G mtDNA in samples harboring the mutation.</p><p><b>RESULTS</b>A3243G point mutations were identified in all muscle and/or blood samples from 10 MELAS patients. The proportion of mutant mtDNA was 10.8%-47.8% in blood (7 cases), and 39.4%-67.7% in muscle (5 cases). This ratio was invariably higher in muscle than in blood from two patients whose blood and muscle samples were both available. Younger patients usually carried higher proportions of A3243G mutant mtDNA in blood. Eight maternal relatives from 6 families were also examined. Maternal transmission of the disease could be identified in one family. No A3243G point mutations were found in mothers' blood from 3 families and siblings' blood from 2 families.</p><p><b>CONCLUSIONS</b>All 10 MELAS patients were found to have the mtDNA A3243G mutation in their muscle and/or blood. The A3243G mutation seems to be sporadic in 5 of the families examined, suggesting the mechanism of de novo mutation for the pathogenesis of their MELAS syndrome.</p>
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Base de dados:
WPRIM
Assunto principal:
DNA Mitocondrial
/
Mutação Puntual
/
Síndrome MELAS
/
Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Chinese Medical Journal
Ano de publicação:
2002
Tipo de documento:
Article