Reducing diagnostic error in mitochondrial diseases with the COMMI project

The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to :

• create a cohort of 400 patients with mitochondrial diseases caused by a mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). of a nuclear gene, diagnosed (high-throughput sequencing) by one of the laboratories of the network;
• analyse their genetic and clinical data in order to establish genotype/phenotype correlations and thus improve the interpretation of the results of an increasingly complex molecular diagnosis.

This project complements a study conducted in France about ten years ago on the mitochondrial DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine. of 743 people with mitochondriopathies. The patients concerned have received a letter of information on the project and the steps to follow to exercise their right to use their data, in accordance with current European laws.

2023 – Projet COMMI. (in french) Dr Cécile Rouzier, Pr Vincent Procaccio and the entire MitoDiag Network

 

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Bannwarth S, Procaccio V, Lebre AS et al. J Med Genet. 2013 Oct;