Analysis of a large French cohort of patients with mitochondrial diseases

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The French network of diagnostic laboratories for mitochondrial diseases (MitoDiag) has published the results of a clinical and genetic study (panel, WGS and/or WES on the nuclear genome) of around 2,000 patients suspected of having a primary mitochondrial disease (PMD). The authors observed:

  • pathogenic variants in 397 patients (newborn to 81 years), 74% of whom were children, representing the largest cohort of its kind described to date;
  • 322 patients with MMP and 75 with an MMP picture, but of non-mitochondrial genetic origin;
  • 172 different genes affected, 501 genetic variants (253 new);
  • more common involvement of genes linked to oxidative phosphorylation in children, and mitochondrial DNA maintenance in adults;
  • within MMPs, a greater frequency of Leigh syndrome in children (60 out of 294), and chronic progressive external ophthalmoplegia in adults (36 out of 103).

The researchers also propose a decision tree to guide doctors in their diagnostic strategy for these diseases.

 

Primary mitochondrial disorders and mimics: Insights from a large French cohort. Rouzier, C., Pion, E., Chaussenot, A. et al. Ann Clin Transl Neurol 2024 11(6): 1478-1491.

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