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. 2003 Dec;40(12):896-9.
doi: 10.1136/jmg.40.12.896.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

S Lebon  1 , M Chol, P Benit, C Mugnier, D Chretien, I Giurgea, I Kern, E Girardin, L Hertz-Pannier, P de Lonlay, A Rötig, P Rustin, A Munnich
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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

S Lebon et al. J Med Genet. 2003 Dec.

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.

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