Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
Experimental & Molecular Medicine
;
: 446-455, 2010.
Article
Dans Anglais
| WPRIM
| ID: wpr-27758
ABSTRACT
Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNA(Leu(UUR)) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
ADN mitochondrial
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Séquence d'acides aminés
/
Similitude de séquences
/
Syndrome MERRF
/
Syndrome MELAS
/
Polymorphisme de nucléotide simple
/
Techniques de diagnostic moléculaire
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adolescent
/
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Experimental & Molecular Medicine
Année:
2010
Type:
Article
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