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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Lebon, S
Chol, M
Benit, P
Mugnier, C
Chretien, D
Giurgea, I
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Published in Journal of Medical Genetics. 2003, vol. 40, no. 12, p. 896-9
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 AdolescentAdultChildChild, PreschoolDNA Mutational AnalysisDNA, Mitochondrial/geneticsElectron Transport Complex I/geneticsFemaleHumansInfantLeigh Disease/geneticsMaleMutation
PMID: 14684687
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Research group Pathogénèse du syndrome néphrotique idiopathique de l'enfant (180)
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LEBON, S et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. In: Journal of Medical Genetics, 2003, vol. 40, n° 12, p. 896-9. doi: 10.1136/jmg.40.12.896 https://archive-ouverte.unige.ch/unige:47579

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Deposited on : 2015-03-04

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