Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, Ilse; Girardin, Eric; Hertz-Pannier, L; de Lonlay, P; Rötig, A; Rustin, P; Munnich, A

doi:10.1136/jmg.40.12.896

Scientific article

English

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Contributors

Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, Ilse; Girardin, Eric; Hertz-Pannier, L; de Lonlay, P; Rötig, A; Rustin, P; Munnich, A

Published in

Journal of medical genetics, vol. 40, no. 12, p. 896-899

Publication date

2003

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

Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
DNA, Mitochondrial/genetics
Electron Transport Complex I/genetics
Female
Humans
Infant
Leigh Disease/genetics
Male
Mutation

UNIGE affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

UNIGE research groups

Pathogénèse du syndrome néphrotique idiopathique de l'enfant (180)

Citation (ISO format)

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. 896–899. doi: 10.1136/jmg.40.12.896

Article (Published version)

Identifiers

PID : unige:47579
DOI : 10.1136/jmg.40.12.896
PMID : 14684687

Journal ISSN

0022-2593

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Creation

04/03/2015 10:30:00

First validation

04/03/2015 10:30:00

Update

14/03/2023 22:57:52

Status update

14/03/2023 22:57:51

Last indexation

30/10/2024 23:14:50

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

Main files (1)

Identifiers

Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation