Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Détails
ID Serval
serval:BIB_3F7EA64DA5D6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Périodique
Journal of Medical Genetics
ISSN
1468-6244[electronic]
Statut éditorial
Publié
Date de publication
2003
Volume
40
Numéro
12
Pages
896-899
Langue
anglais
Résumé
Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and T14487C) and three previously reported mutations (T10191C, T12706C and A13514G) in children with Leigh or Leigh-like encephalopathy. The recurrent mutations consistently involved T-->C transitions (p<10(-4)). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial/genetics, Electron Transport Complex I/genetics, Female, Humans, Infant, Leigh Disease/genetics, Male, Mutation
Pubmed
Web of science
Open Access
Oui
Création de la notice
12/01/2010 10:55
Dernière modification de la notice
20/08/2019 14:36