There are more than 400 forms of genetic—or primary—mitochondrial diseases linked to mutations in genes directly involved in the functioning or maintenance of mitochondria. Mitochondria are unique in that they have their own genome and are therefore influenced by two genomes: the nuclear genome, with its 23 pairs of chromosomes contained in our cell nuclei, and the mitochondrial DNA within the mitochondria themselves, which explains the high degree of heterogeneity of these diseases. These diseases affect approximately 1 in 4,300 people in Europe, and at least 16,000 people in France.
These genetic mutations cause dysfunction in the mitochondria, the power house of the cell present in almost all of our cells, and are the cause of diseases affecting vision, brain, muscles, metabolism, and more. Mitochondrial research has made major progress in recent years, and as our understanding of these diseases and their management advances, the first innovative therapies are emerging for some of them.
In order to centralize knowledge and facilitate information searches (monitoring, care, research, clinical trials, etc.), 12 French associations of people affected by primary mitochondrial diseases, with the help of the AFM-Telethon, have created MitoGether, a consortium whose objectives are to:
Press contacts :
Stéphanie Bardon, Marion Delbouis – presse@afm-telethon.fr – 01.69.47.29.01 - 06 45 15 95 87