Did you say mitochondrial diseases?
Mitochondria are the true powerhouses of our cells, and are present in almost all of them. However, during mitochondrial disease, they are unable to produce sufficient energy for optimal cellular function. Primary mitochondrial diseases, i.e., those caused Par mutations in genes directly involved in the functioning or maintenance of mitochondria, are estimated to number around 400*.
* According to the postulate one gene = one disease
A wide variety of diseases
They present a great deal of heterogeneity on both the genetic and clinical levels: these pathologies are very different in their mode of expression, their age of onset, their severity and their rate of progression, which can complicate and therefore delay diagnosis. They affect one in 4,300 people in Europe, or nearly 16,000 people in France, but this number is very likely underestimated.
Still room for progress
While mitochondrial diseases are rare, they mobilize a strong network of researchers, physicians, and patient associations in France to advance care, treatments, and quality of life, as well as diagnosis itself.
While advances in knowledge in recent years have helped reduce diagnostic error, it remains significant. In 2017, the genetic mutation in question was not identified in 60% of people with mitochondrial disease. This rate has since declined, but it still stands at 40 to 50% today.
