Mitochondrial Iron-sulfur Cluster Biogenesis from Molecular Understanding to Clinical Disease

Overview

Journal Neurosciences (Riyadh)

Specialty Neurology

Date 2017 Jan 9

PMID 28064324

Citations 12

Authors

Majid Alfadhel

Marwan Nashabat

Qais Abu Ali

Khalid Hundallah

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Missing Values in Longitudinal Proteome Dynamics Studies: Making a Case for Data Multiple Imputation.

Yan Y, Sankar B, Mirza B, Ng D, Pelletier A, Huang S J Proteome Res. 2024; 23(9):4151-4162.

PMID: 39189460 PMC: 11385379. DOI: 10.1021/acs.jproteome.4c00263.

Iron Dysregulation in Cardiovascular Diseases.

Wang H, Huang Z, Du C, Dong M Rev Cardiovasc Med. 2024; 25(1):16.

PMID: 39077672 PMC: 11263000. DOI: 10.31083/j.rcm2501016.

Anti-Cancer Mechanisms of Diarylpentanoid MS17 (1,5-Bis(2-hydroxyphenyl)-1,4-pentadiene-3-one) in Human Colon Cancer Cells: A Proteomics Approach.

Hon K, Zainal Abidin S, Abas F, Othman I, Naidu R Int J Mol Sci. 2024; 25(6).

PMID: 38542474 PMC: 10970808. DOI: 10.3390/ijms25063503.

Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.

Salazar D, Kloke K, Bonilla Guerrero R, Ferreira C, Blau N Mol Genet Metab. 2023; 138(3):107528.

PMID: 36774919 PMC: 10509718. DOI: 10.1016/j.ymgme.2023.107528.

Mitochondrial biology and dysfunction in secondary mitochondrial disease.

Baker M, Crameri J, Thorburn D, Frazier A, Stojanovski D Open Biol. 2022; 12(12):220274.

PMID: 36475414 PMC: 9727669. DOI: 10.1098/rsob.220274.

References

Lynch D, Farmer J, Balcer L, Wilson R . Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol. 2002; 59(5):743-7. DOI: 10.1001/archneur.59.5.743. View

Bonomi F, Iametti S, Morleo A, Ta D, Vickery L . Studies on the mechanism of catalysis of iron-sulfur cluster transfer from IscU[2Fe2S] by HscA/HscB chaperones. Biochemistry. 2008; 47(48):12795-801. DOI: 10.1021/bi801565j. View

Mayr J, Zimmermann F, Fauth C, Bergheim C, Meierhofer D, Radmayr D . Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011; 89(6):792-7. PMC: 3234378. DOI: 10.1016/j.ajhg.2011.11.011. View

Kispal G, Csere P, Prohl C, Lill R . The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J. 1999; 18(14):3981-9. PMC: 1171474. DOI: 10.1093/emboj/18.14.3981. View

Lange H, Kaut A, Kispal G, Lill R . A mitochondrial ferredoxin is essential for biogenesis of cellular iron-sulfur proteins. Proc Natl Acad Sci U S A. 2000; 97(3):1050-5. PMC: 15518. DOI: 10.1073/pnas.97.3.1050. View

Tucker E, Mimaki M, Compton A, McKenzie M, Ryan M, Thorburn D . Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat. 2011; 33(2):411-8. DOI: 10.1002/humu.21654. View

Alikasifoglu M, Topaloglu H, Tuncbilek E, Ceviz N, Anar B, Demir E . Clinical and genetic correlate in childhood onset Friedreich ataxia. Neuropediatrics. 1999; 30(2):72-6. DOI: 10.1055/s-2007-973463. View

Lill R, Diekert K, Kaut A, Lange H, Pelzer W, Prohl C . The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins. Biol Chem. 1999; 380(10):1157-66. DOI: 10.1515/BC.1999.147. View

Kispal G, Csere P, Guiard B, Lill R . The ABC transporter Atm1p is required for mitochondrial iron homeostasis. FEBS Lett. 1998; 418(3):346-50. DOI: 10.1016/s0014-5793(97)01414-2. View

10.

Farhan S, Wang J, Robinson J, Lahiry P, Siu V, Prasad C . Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. Mol Genet Genomic Med. 2014; 2(1):73-80. PMC: 3907916. DOI: 10.1002/mgg3.46. View

11.

Debray F, Stumpfig C, Vanlander A, Dideberg V, Josse C, Caberg J . Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. J Inherit Metab Dis. 2015; 38(6):1147-53. DOI: 10.1007/s10545-015-9857-1. View

12.

Shi Y, Ghosh M, Kovtunovych G, Crooks D, Rouault T . Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis. Biochim Biophys Acta. 2011; 1823(2):484-92. PMC: 3546607. DOI: 10.1016/j.bbamcr.2011.11.002. View

13.

Shi Y, Ghosh M, Tong W, Rouault T . Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis. Hum Mol Genet. 2009; 18(16):3014-25. PMC: 2714726. DOI: 10.1093/hmg/ddp239. View

14.

Netz D, Mascarenhas J, Stehling O, Pierik A, Lill R . Maturation of cytosolic and nuclear iron-sulfur proteins. Trends Cell Biol. 2013; 24(5):303-12. DOI: 10.1016/j.tcb.2013.11.005. View

15.

Navarro-Sastre A, Tort F, Stehling O, Uzarska M, Arranz J, Del Toro M . A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011; 89(5):656-67. PMC: 3213398. DOI: 10.1016/j.ajhg.2011.10.005. View

16.

Ferrer-Cortes X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz J . Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. J Inherit Metab Dis. 2012; 36(5):841-7. DOI: 10.1007/s10545-012-9565-z. View

17.

DHooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J . X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. Eur J Paediatr Neurol. 2012; 16(6):730-5. DOI: 10.1016/j.ejpn.2012.02.003. View

18.

Dolatshad H, Pellagatti A, Liberante F, Llorian M, Repapi E, Steeples V . Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes. Leukemia. 2016; 30(12):2322-2331. PMC: 5029572. DOI: 10.1038/leu.2016.149. View

19.

Zheng L, White R, Cash V, Dean D . Mechanism for the desulfurization of L-cysteine catalyzed by the nifS gene product. Biochemistry. 1994; 33(15):4714-20. DOI: 10.1021/bi00181a031. View

20.

Rouault T, Tong W . Iron-sulfur cluster biogenesis and human disease. Trends Genet. 2008; 24(8):398-407. PMC: 2574672. DOI: 10.1016/j.tig.2008.05.008. View