Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
J Med Genet
; 40(12): 896-9, 2003 Dec.
Article
en En
| MEDLINE
| ID: mdl-14684687
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Complejo I de Transporte de Electrón
/
Mutación
Límite:
Adolescent
/
Adult
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Child
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Child, preschool
/
Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
J Med Genet
Año:
2003
Tipo del documento:
Article
País de afiliación:
Francia