Friedreich’s ataxia is an inherited neurodegenerative disease caused by frataxin deficiency. Frataxin is a conserved mitochondrial protein that plays a role in Fe-S cluster assembly in mitochondria. Fe-S clusters are modular cofactors that perform essential functions throughout the cell. They are synthesized by a multi-step and multi-subunit mitochondrial machinery that includes a scaffold protein Isu for assembling a protein bound Fe-S cluster intermediate. Frataxin interacts with Isu, iron, and with the cysteine desulfurase Nfs1 that supplies sulfur, thus placing it at the center of mitochondrial Fe-S cluster biosynthesis.
Biochemistry | Chemistry | Molecular Biology
Stemmler, Timothy L.; Lesuisse, Emmanuel; Pain, Debumar; and Dancis, Andrew, "Frataxin and Mitochondrial FeS Cluster Biogenesis" (2010). Faculty Publications. Paper 13.