Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood - 12/08/11
, Alice Bourdon , Dominique Chrétien, PhD , Mohamed Zarhrate †, Johanna Corcos †, Abdelhamid Slama, MD §, Valérie Cormier-Daire, MD, PhD , †, Pascale de Lonlay, MD, PhD ‡, Arnold Munnich, MD, PhD , †, Agnès Rötig, PhD ⁎ 
INSERM U781, Hôpital Necker-Enfants Malades, Paris, France Reprint requests: Agnès Rötig, INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.Résumé |
Objective |
To determine the actual incidence of mitochondrial DNA (mtDNA) depletion syndrome in multiple respiratory chain deficiency.
Study design |
We carried out a real-time polymerase chain reaction quantification of mtDNA in liver or muscle tissue of 100 children with unexplained multiple oxidative phosphorylation enzyme deficiency.
Results |
A reduction of mtDNA copy number to <35% of control values was found in liver and/or muscle in half of the children (50/100). Most of these patients (32/50; 64%) presented with severe neonatal onset liver involvement; 7 (14%) had Alpers syndrome, and 11 (22%) exhibited various forms of neurologic involvement. Deoxyguanosine kinase or polymerase γ (POLG) mutations could be identified in 11 of 32 patients with liver involvement, and POLG mutations were consistently found in all 7 patients with Alpers syndrome. Homozygous thymidine kinase 2 and MPV17 gene mutations were found in 2 patients.
Conclusions |
Our findings show that mtDNA depletion is a prevalent cause of multiple respiratory chain deficiency in infancy.
Le texte complet de cet article est disponible en PDF.Abbreviations : MtDNA, OXPHOS, PCR, POLG
Plan
| Supported in part by the Association Française Contre les Myopathies. |
Vol 150 - N° 5
P. 531 - mai 2007 Retour au numéro
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