A new FDX2 mutation identified in a form of mitochondrial myopathy

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An Italian team studied the case of a 9-year-old patient with a mitochondrial myopathy called MEOAL (Mitochondrial Episodic Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy), associated with a new homozygous mutation of FDX2 (c.200+4 A>G).

  • The cellular abnormalities observed are probably related to a decrease in the amount of ferredoxin 2 rather than an alteration in its structure or function.
  • Mitochondrial function and iron homeostasis are disrupted, with a particular accumulation of iron and ferritin in the mitochondria.
  • The levels of superoxide dismutase 2 (SOD2) are reduced in the cells, which could contribute to low production of reactive oxygen species.

These findings refine our understanding of this disease and pave the way for new studies to explore SOD2 as a potential target and accelerate therapeutic research.

 

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease. Doni D, Grifagni D, Cavion F et al. Cell Death Dis. 2025 Dec.

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