Inflammation appears to play a role in the pathogenesis of the mitochondria-associated iron accumulation disease Friedreich ataxia (FRDA). Microgliosis has been reported in the dorsal root ganglia of FRDA patients, a known site of FRDA neuropathology. Microglial activation has also been reported in FRDA patients in brain regions associated with neuropathology using PET scanning for 18F-FEMPA, a high-affinity ligand for the microglia-specific 18-kDa Translocator protein (TPSO). 18F-FEMPA signal intensity correlates with age of disease onset, supporting a causal role for neuroinflammation in FRDA symptoms. FRDA patients also show elevated plasma IL-6, and FRDA patient blood transcriptomic profiles show upregulated innate immune responses.
Thursday, September 15, 2022
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence
Hanaford A, Johnson SC. Orphanet Journal of Rare Diseases. 2022 Sep;17(1):335. DOI: 10.1186/s13023-022-02495-3.
