A team of CNRS 6015/INSERM 1083

The MITOchondrial DYNamics variation portal (mitodyn.org)

Mitolab is proud to announce the MITOchondrial DYNamics variation portal, mitodyn.org, aimed at specializing in genes involved in disorders of mitochondrial dynamics (Cassereau et al., Orphanet J Rare Dis 2011).

We have used the Leiden Open-source Variation Database (LOVD, Fokkema et al., Hum Mutat 2011) framework. A standardized description of the clinical and molecular items is set up using drop-down lists with predefined variables. The clinical features are based on the usual symptoms of mitochondrial diseases.

The data is openly accessible and should prove a valuable tool for clinicians and researchers alike since it will contain published as well as unpublished sequence variants. Contributors can submit their variants online to the database after registering for a login and password. This contact information is collected for reference purposes and clarification of the data submitted. The description of mutational data is confirmed using the web-based software Mutalyzer, to which the LOVD software is currently also linked (Wildeman et al., Hum Mutat 2008). Variations submitted directly to the LSDB are re-checked with these tools.

Since 2011, the mitodyn.org reviews all the clinical and molecular data of patients carrying GDAP1 (MIM# 606598) mutations published in peer-reviewed literature, as well as unpublished contributions that may be directly submitted. The mitodyn.org will therefore incorporate other genes involved in diseases affecting mitochondrial dynamics and bioenergetics. Thus, the OPA1 LSDB (eOPA1, http://lbbma.univ-angers.fr/eOPA1), curated by our laboratory, will soon be transferred to mitodyn.org. 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.

Mitolab integrated the Human Variome Project (HVP) Gene/Disease Specific Advisory Council in April 2012 (as official Partner for OPA1 and GDAP1 LSDBs) and participated in the HVP 4th Biennial Meeting held at UNESCO Headquarters, Paris, 11th–15th June 2012.