Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

Details

Serval ID
serval:BIB_3F7EA64DA5D6
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal
Journal of Medical Genetics
Author(s)
Lebon S., Chol M., Benit P., Mugnier C., Chretien D., Giurgea I., Kern I., Girardin E., Hertz-Pannier L., de Lonlay P., Rötig A., Rustin P., Munnich A.
ISSN
1468-6244[electronic]
Publication state
Published
Issued date
2003
Volume
40
Number
12
Pages
896-899
Language
english
Abstract
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.
Keywords
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
Yes
Create date
12/01/2010 9:55
Last modification date
20/08/2019 13:36
Usage data