The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

Journal of Human Genetics

Volumn 58, Issue 8, 2013, Pages 526-530

  Jaberi, Elham ^a   Chitsazian, Fereshteh ^a   Ali Shahidi, Gholam ^b   Rohani, Mohammad ^b   Sina, Farzad ^b   Safari, Iman ^a   Malakouti Nejad, Maryam ^a   Houshmand, Masoud ^c   Klotzle, Brandy ^d   Elahi, Elahe ^a,e  

^a UNIVERSITY OF TEHRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^d College of Science ^*

^e University of Rehabilitation Sciences   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CARNITINE; METHYLMALONIC ACID; SUCCINIC ACID; SUCCINYL COENZYME A SYNTHETASE; SUCCINYL COENZYME A SYNTHETASE BETA SUBUNIT; SUCCINYLCARNITINE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENCEPHALOMYOPATHY; GENE; GENE MUTATION; HUMAN; PROTEIN DOMAIN; SUCLA2 GENE;

ADULT; AMINO ACID SUBSTITUTION; BRAIN; CARNITINE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PEDIGREE; SUCCINATE-COA LIGASES;

EID: 84883261850     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.45     Document Type: Article

References (26)

1. Chinnery, P. F. & Turnbull, D. M. Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106, 94-101 (2001)
2. Zeviani, M. & Di Donato, S. Mitochondrial disorders. Brain 127, 2153-2172 (2004)
3. Coenen, M. J., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080-2086 (2004)
4. Valente, L., Tiranti, V., Marsano, R. M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C. et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 80, 44-58 (2007)
5. Davis, R. L. & Sue, C. M. The genetics of mitochondrial disease. Semin Neurol. 31, 519-530 (2011)
6. Scaglia, F. Nuclear gene defects in mitochondrial disorders. Methods Mol. Biol. 837, 17-34 (2012)
7. Copeland, W. C. Defects in mitochondrial DNA replication and human disease. Crit. Rev. Biochem. Mol. Biol. 47, 64-74 (2012)
8. Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S. et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76, 1081-1086 (2005)
9. Spinazzola, A. & Zeviani, M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J. Intern. Med. 265, 174-192 (2009)
10. Johnson, J. D., Mehus, J. G., Tews, K., Milavetz, B. I. & Lambeth, D. O. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J. Biol. Chem. 273, 27580-27586 (1998)
11. Jeffery, C. J. Moonlighting proteins. Trends Biochem. Sci. 24, 8-11 (1999)
12. Tomlinson, I. P., Alam, N. A., Rowan, A. J., Barclay, E., Jaeger, E. E., Kelsell, D. et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet. 30, 406-410 (2002)
13. Miller, C., Wang, L., Ostergaard, E., Dan, P. & Saada, A. The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochim. Biophys. Acta 1812, 625-629 (2011)
14. Lambeth, D. O., Tews, K. N., Adkins, S., Frohlich, D. & Milavetz, B. I. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem. 279, 36621-36624 (2004)
15. Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. et al. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur. J. Pediatr. 169, 201-205 (2010)
16. Kavanaugh-Black, A., Connolly, D. M., Chugani, S. A. & Chakrabarty, A. M. Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc. Natl. Acad. Sci. USA 91, 5883-5887 (1994)
17. Kowluru, A., Tannous, M. & Chen, H. Q. Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch. Biochem. Biophys. 398, 160-169 (2002)
18. Rustin, P., Bourgeron, T., Parfait, B., Chretien, D., Munnich, A. & Rotig, A. Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim. Biophys. Acta 1361, 185-197 (1997)
19. Ostergaard, E., Hansen, F. J., Sorensen, N., Duno, M., Vissing, J., Larsen, P. L. et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130, 853-861 (2007)
20. Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S. et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130, 862-874 (2007)
21. Lamperti, C., Fang, M., Invernizzi, F., Liu, X., Wang, H., Zhang, Q. et al. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol. Genet. Metab. 107, 403-408 (2012)
22. Sali, A. & Blundell, T. L. Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 234, 779-815 (1993)
23. Van Der Spoel, D., Lindahl, E., Hess, B., Groenhof, G., Mark, A. E. & Berendsen, H. J. GROMACS: fast, flexible, and free. J. Comput. Chem. 26, 1701-1718 (2005)
24. Humphrey, W., Dalke, A. & Schulten, K. VMD: visual molecular dynamics. J. Mol. Graph. 14, 27-38 (1996)
25. Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., Dirocco, M. et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J. Inherit. Metab. Dis. 32, 143-158 (2009)
26. Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S. et al. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J. Med. Genet. 47, 670-676 (2010)