Author/Editor		Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, I
Title		Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
Type		članek
Source		J Med Genet
Vol. and No.		Letnik 40, št. 12
Publication year		2003
Volume		str. 896-9
Language		eng
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.
Descriptors		ELECTRON TRANSPORT MUTATION DNA, MITOCHONDRIAL LEIGH DISEASE AGE FACTORS SEX FACTORS DNA MUTATIONAL ANALYSIS