OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Denis Pierron 1, 2, 3 Marc Ferré 4 Christophe Rocher 1 Arnaud Chevrollier 4 Pascal Murail 2 Didier Thoraval 3 Patrizia Amati-Bonneau 4 Pascal Reynier 4 Thierry Letellier 1, *
* Auteur correspondant
1 Physiopathologie mitochondriale
2 PACEA - De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie
3 IBGC - Institut de biochimie et génétique cellulaires
4 Mitochondrie : Régulations et Pathologie
Abstract : BACKGROUND: Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies. LHON is associated with mitochondrial DNA (mtDNA) mutations whereas ADOA is mainly due to mutations in the OPA1 gene that encodes a mitochondrial protein involved in the mitochondrial inner membrane remodeling. A striking influence of mtDNA haplogroup J on LHON expression has been demonstrated and it has been recently suggested that this haplogroup could also influence ADOA expression. In this study, we have tested the influence of mtDNA backgrounds on OPA1 mutations. METHODS: To define the relationships between OPA1 mutations and mtDNA backgrounds, we determined the haplogroup affiliation of 41 French patients affected by OPA1-related ADOA by control-region sequencing and RFLP survey of their mtDNAs. RESULTS: The comparison between patient and reference populations did not revealed any significant difference. CONCLUSION: Our results argue against a strong influence of mtDNA background on ADOA expression. These data allow to conclude that OPA1 could be considered as a "severe mutation", directly responsible of the optic atrophy, whereas OPA1-negative ADOA and LHON mutations need an external factor(s) to express the pathology (i.e. synergistic interaction with mitochondrial background).
Type de document :
Article dans une revue
BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.70. 〈10.1186/1471-2350-10-70〉
Liste complète des métadonnées

Littérature citée [28 références]  Voir  Masquer  Télécharger
http://www.hal.inserm.fr/inserm-00663623
Contributeur : Ed. Bmc <>
Soumis le : vendredi 27 janvier 2012 - 13:49:03
Dernière modification le : samedi 14 juillet 2018 - 09:38:07
Document(s) archivé(s) le : mercredi 14 décembre 2016 - 02:03:15

Fichiers

1471-2350-10-70.pdf
Fichiers éditeurs autorisés sur une archive ouverte

Identifiants

Collections

UNIV-ANGERS

Citation

Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, et al.. OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.. BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.70. 〈10.1186/1471-2350-10-70〉. 〈inserm-00663623〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

342

Téléchargements de fichiers

234

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD