A team of CNRS 6214/INSERM 1083

eOPA1 has moved to the mitodyn.org portal

The obsolete eOPA1 website

Autosomal dominant optic atrophy (ADOA; MIM# 165500), also known as Kjer disease, is the most common hereditary optic neuropathy. The OPA1 gene (optic atrophy 1; MIM# 605290), has been identified in most cases of the disease.

In 2003, we have developed a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1 (Ferre et al., Hum Mutat 2005). The database has been designed to incorporate new submissions rapidly and will provide a secured online catalog of OPA1 mutations and nonpathogenic sequence variants (NPSVs). The OPA1 LSDB proved useful for molecular diagnosis, large-scale mutation statistics, and the determination of original genotype–phenotype correlations in studies on ADOA (Ferre et al., Hum Mutat 2009).

In 2011, we have developed the MITOchondrial DYNamics variation portal (mitodyn.org), aimed at specializing in genes involved in disorders affecting mitochondrial dynamics and bioenergetics. Thus, the OPA1 LSDB (eOPA1), curated by our laboratory, has been transferred to mitodyn.org.

We also added the ganglioside-induced differentiation-associated protein 1 gene (GDAP1, MIM# 606598), which is involved in the Charcot-Marie-Tooth disease (CMT, MIM# 607831607706608340214400), the most commonly inherited peripheral neuropathy. We will then integrate MFN2 (MIM# 609260), responsible for CMT2A2, and DNM1L (MIM# 603850) associated with encephalopathy with lactic acidosis. Since the same patients may be affected by these different diseases involving mitochondrial dysfunction, the data collected should interest physicians and researchers alike. Eventually, we hope to be able to refine genotype-phenotype correlations in diseases involving mitochondrial dynamics by comparing and cross-checking the clinical, electrophysiological and biochemical data recorded in the mitodyn.org databases.