Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Frontiers in Genetics

Volumn 5, Issue NOV, 2014, Pages

  Invernizzi, Federica ^a   Ardissone, Anna ^a   Lamantea, Eleonora ^a   Garavaglia, Barbara ^a   Zeviani, Massimo ^a   Farina, Laura ^a   Ghezzi, Daniele ^a   Moroni, Isabella ^a,b  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Brain MRI; Leukoencephalopathy; Mitochondrial disorders; MMDS1; Multiple mitochondrial dysfunction syndrome; NFU1

Indexed keywords

CREATINE; FUMARIC ACID; GLUTARIC ACID; GLYCINE; LACTIC ACID; N ACETYLASPARTIC ACID; PYRUVIC ACID; RIBOFLAVIN; SUCCINIC ACID; THIAMINE;

ARTICLE; BIOPSY; CASE REPORT; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LEUKOENCEPHALOPATHY; MALE; MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME; NFU1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PNEUMONIA; POLYMERASE CHAIN REACTION; PSYCHOMOTOR DISORDER; QUADRIPLEGIA; SEIZURE; SPECTROSCOPY; WESTERN BLOTTING;

EID: 84917736963     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2014.00412     Document Type: Article

References (14)

1. Ajit Bolar, N. L., Vanlander, A. V., Wilbrecht, C., Van der Aa, N., Smet, J., De Paepe, B., et al. (2013). Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum. Mol. Genet. 22, 2590-2602. doi: 10.1093/hmg/ddt107
2. Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., et al. (2004). Clinical and molecular findings in children with complex I deficiency. Biochim. Biophys. Acta 1659, 136-147. doi: 10.1016/j.bbabio.2004.09.006
3. Cameron, J. M., Janer, A., Levandovskiy, V., MacKay, N., Rouault, T. A., Tong, W. H., et al. (2011). Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am. J. Hum. Genet. 89, 486-495. doi: 10.1016/j.ajhg.2011.08.011
4. Ferrer-Cortes, X., Font, A., Bujan, N., Navarro-Sastre, A., Matalonga, L., Arranz, J. A., et al. (2013). Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. J. Inherit. Metab. Dis. 36, 841-847. doi: 10.1007/s10545-012-9565-z
5. Kashani, A. L., Thiffault, I., Dilenge, M. E., Saint-Martin, C., Guerrero, K., Tran, L. T., et al. (2014). A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics 15, 161-164. doi: 10.1007/s10048-014-0412-2
6. Mayr, J. A., Zimmermann, F. A., Fauth, C., Bergheim, C., Meierhofer, D., Radmayr, D., et al. (2011). Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am. J. Hum. Genet. 89, 792-797. doi: 10.1016/j.ajhg.2011.11.011
7. Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E., Fernandez-Vizarra, E., Lamantea, E., et al. (2014). Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325. doi: 10.1016/j.ajhg.2014.08.003
8. Mochel, F., Knight, M. A., Tong, W. H., Hernandez, D., Ayyad, K., Taivassalo, T., et al. (2008). Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am. J. Hum. Genet. 82, 652-660. doi: 10.1016/j.ajhg.2007.12.012
9. Navarro-Sastre, A., Tort, F., Stehling, O., Uzarska, M. A., Arranz, J. A., Del Toro, M., et al. (2011). 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. 89, 656-667. doi: 10.1016/j.ajhg.2011.10.005
10. Nizon, M., Boutron, A., Boddaert, N., Slama, A., Delpech, H., Sardet, C., et al. (2014). Leukoencephalopathy with cysts and hypeglycinemia may result from NFU1 deficiency. Mitochondrion 15, 59-64. doi: 10.1016/j.mito.2014.01.003
11. Roualt, T. A., and Tong, W. H. (2008). Iron-sulfur cluster biogenesis and human disease. Trends Genet. 24, 398-407. doi: 10.1016/j.tig.2008.05.008
12. Seyda, A., Newbold, R. F., Hudson, T. J., Verner, A., MacKay, N., Winter, S., et al. (2001). A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am. J. Hum. Genet. 68, 386-396. doi: 10.1086/318196
13. Stehling, O., Wilbrecht, C., and Lill, R. (2014). Mitochondrial iron-sulfur protein biogenesis and human disease. Biochimie. 100, 61-77. doi: 10.1016/j.biochi.2014.01.010
14. Uziel, G., Garavaglia, B., and Di Donato, S. (1988). Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria. Muscle Nerve 11, 720-724. doi: 10.1002/mus.880110708