Article: article from journal or magazin.
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of Medical Genetics
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.
Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial/genetics, Electron Transport Complex I/genetics, Female, Humans, Infant, Leigh Disease/genetics, Male, Mutation
Web of science
Last modification date