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

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 affecte

SUBMITTER: Pierron D 

PROVIDER: S-EPMC2726129 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature