The results of a large-scale study confirm the great diversity and heterogeneity of mitochondrial diseases in France. They also demonstrate the irreplaceable value of the MitoDiag diagnostic network of expert French laboratories.
Improving diagnosis and management Par sharing knowledge acquired on genetic anomalies causing primary mitochondrial diseases is the purpose of the French MitoDiag network Created in 2000, it now brings together 11 diagnostic laboratories for mitochondrial diseases at the national level.
Based on samples from more than 2,000 people who showed signs suggestive of mitochondrial disease, these laboratories were able to identify pathogenic variants in 397 of them, the majority of whom were children (294). This is the largest national cohort of this type described to date.
Many mitochondrial diseases, but not only
The network identified nearly 500 genetic variants (including 253 reported for the first time) in 172 different genes. Their mutations caused a wide range of manifestations, including symptoms that were present from birth or only appeared very late in life, and forms that were either extremely severe from the outset or relatively benign in old age…The vast majority of cases involved a mitochondrial disease, most often Leigh syndrome in children or chronic progressive external ophthalmoplegia in adults. But the clinical study conducted Par the MitoDiag network also identified, in nearly 20% of those tested, a disease with mitochondrial repercussions but linked to a non-mitochondrial nuclear gene, such as epileptic encephalopathy. Distinguishing them is essential for optimal management.
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Primary mitochondrial disorders and mimics: Insights from a large French cohort