PT  - JOURNAL ARTICLE
AU  - Alfadhel, Majid
AU  - Nashabat, Marwan
AU  - Ali, Qais Abu
AU  - Hundallah, Khalid
TI  - Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease
AID  - 10.17712/nsj.2017.1.20160542
DP  - 2017 Jan 01
TA  - Neurosciences Journal
PG  - 4--13
VI  - 22
IP  - 1
4099  - http://nsj.org.sa/content/22/1/4.short
4100  - http://nsj.org.sa/content/22/1/4.full
SO  - Neurosciences (Riyadh)2017 Jan 01; 22
AB  - Iron–sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect. Disorders of mitochondrial import, export and translation, including sideroblastic anemia with ataxia, EVEN-PLUS syndrome and mitochondrial complex I deficiency due to nucleotide-binding protein-like protein gene defect, have also been implicated in ISC biogenesis defects. With advances in next generation sequencing technologies, more disorders related to ISC biogenesis defects are expected to be elucidated. In this article, we aim to shed the light on mitochondrial ISC biogenesis, related proteins and their function, pathophysiology, clinical phenotypes of related disorders, diagnostic approach, and future implications.