Mitochondria-Derived Damage-Associated Molecular Patterns in Neurodegeneration

Wilkins HM, Weidling IW, Ji Y and Swerdlow RH (2017). Front. Immunol. 8:508. doi: 10.3389/fimmu.2017.00508


Friedreich’s ataxia is caused by autosomal recessive inheritance of a mutant Frataxin gene. The product of the Frataxin gene is responsible for iron homeostasis within mitochondria, and loss of this gene in Schwann cells leads to reduced mitochondrial respiration, inflammation, increased mitochondrial iron concentrations, and cell death. COX2 expression is elevated in both animal models and Friedreich’s ataxia patient lymphocytes, an indicator of increased inflammation.