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Open Access 01-12-2009 | Research article

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

Authors: Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, Didier Thoraval, Patrizia Amati-Bonneau, Pascal Reynier, Thierry Letellier

Published in: BMC Medical Genetics | Issue 1/2009

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).

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/70/prepub

Title: OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background
Authors: Denis Pierron
Marc Ferré
Christophe Rocher
Arnaud Chevrollier
Pascal Murail
Didier Thoraval
Patrizia Amati-Bonneau
Pascal Reynier
Thierry Letellier
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-10-70

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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