[1] Respective gene was analyzed in 1996 and coded as
frataxin. [1]
Frataxin has an important role on mitochondrial iron homeostasis.
The product pipeline also includes a gene therapy asset targeting Friedreich ataxia, a rare and life-shortening neurodegenerative disease caused by a single defect in the FXN gene which causes reduced production of the
frataxin protein.
In one study, omaveloxolone treatment dose-dependently increased the expression of key Nrf2 target genes, decreased LPS-induced expression of pro-inflammatory genes, and improved mitochondrial function in several cell lines including hFXN154F mouse embryonic fibroblasts expressing a mutant human
frataxin gene.
Since the index of suspicion was high,
frataxin sequencing was done which demonstrated another allele harboring a c.464G>A nucleotide change.
FA is caused by reduced expression of a mitochondrial protein called
frataxin (FXN) due to a two mutated or abnormal copies of the FXN gene.
It is caused by a defect (mutation) in a gene
Frataxin (FXN).
Reduction in
frataxin causes progressive accumulation of mitochondrial damage.
Altegoer et al., "Crystal structure of Bacillus subtilis cysteine desulfurase SufS and its dynamic interaction with
frataxin and scaffold protein SufU," PLoS One, vol.
It is an autosomal recessive disorder caused by repeated Guanine-Adenine-Adenine triplets in the
frataxin gene on chromosome 9 [106].
Re- increase in GAA repeat leads to a disorder in the synthesis of the
frataxin protein, thus reducing mitochondrial respiratory activity which paves the way for accumulation of free radicals in the cell (1,14).