Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Alsina, D.; Purroy, R.; Ros, J.; Tamarit, J.; Pharmaceuticals 2018, 11, 89. doi:10.3390/ph11030089

Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells.