Emblematic initiatives
MitoDiag Network
Created in 2000, the MitoDiag network brings together 11 French laboratories involved in the diagnosis of mitochondrial diseases. They provide local coverage throughout the country. MitoDiag currently has 60 members (medical biologists, geneticists, clinicians, researchers, and patient associations) who share and disseminate their acquired knowledge on mitochondrial clinical and genetic abnormalities. Website
MitoMatcher National Database
Powered Par the MitoDiag network laboratories and mitochondrial disease reference centers, the MitoMatcher database has already collected clinical, biological, and genetic data from a cohort of more than 7,000 patients suspected of having primary mitochondrial disease in France. This database aims to better understand the complex genetics of these pathologies.
Projet de recherche COMMI
Launched in June 2023, the French COMMI project aimed to combat diagnostic error. Led Par the MitoDiag network, it targeted the creation of a national cohort of 400 patients with mitochondrial disease linked to mutations in nuclear DNA. The analysis of their data (1) thus enabled a better understanding of the spectrum of mitochondrial diseases of nuclear origin, the identification of pathogenic mutations and also the establishment of genotype/phenotype correlations. The results of this study were published in an international journal, sharing these data with the scientific community. They complement those, published in 2013, of a national study on the mitochondrial DNA of 743 patients (2).
(1) Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A et al.
Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491
(2) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS and al.
J Med Genet. 2013 Oct;50(10):704-14.
