Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease

Majid Alfadhel, Marwan Nashabat, Qais Abu Ali, Khalid Hundallah; Neurosciences (Riyadh). 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542.

Iron-sulfur assembly defects which include 5 disorders: Friedreich ataxia due to FXN gene defect, combined oxidative phosphorylation deficiency 19 due to LYRM4 gene defect, infantile complex II/III deficiency (IMC23D) due to NFS1 gene defect, hereditary myopathy with lactic acidosis due to ISCU gene defect and mitochondrial muscle myopathy due to Ferredoxin 1-Like protein (FDX1L) gene defect.
In conclusion, the combined clinical and advanced molecular diagnostic efforts will likely identify more disorders linked to the mitochondrial ISC biogenesis pathway, and potentially discover new genes in association with such diseases. Continued studies will help further elucidate mitochondrial iron homeostasis regulation, as understanding of mitochondrial iron overload could potentially yield better therapeutic approaches for such defects.