SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Brain

Volumn 130, Issue 3, 2007, Pages 862-874

  Carrozzo, Rosalba ^a   Dionisi Vici, Carlo ^a   Steuerwald, Ulrike ^b   Lucioli, Simona ^a   Deodato, Federica ^a   Di Giandomenico, Sivia ^a   Bertini, Enrico ^a   Franke, Barbara ^c   Kluijtmans, Leo A J ^c   Meschini, Maria Chiara ^a   Rizzo, Cristiano ^a   Piemonte, Fiorella ^a   Rodenburg, Richard ^c   Santer, René ^d   Santorelli, Filippo M ^a   Van Rooij, Arno ^c   Vermunt De Koning, Diana ^c   Morava, Eva ^c   Wevers, Ron A ^c  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b Department of Occupational and Public Health ^*  (Faroe Islands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Methylmalonic aciduria; mtDNA depletion; Succinyl CoA synthetase; Succinylcarnitine; TCA cycle defect

Indexed keywords

ARGININE; CARNITINE; CYSTEINE; METHYLMALONIC ACID; SUCCINYL COENZYME A SYNTHETASE; TRICARBOXYLIC ACID;

ARTICLE; CATALYSIS; CAUDATE NUCLEUS; CHILD; CLINICAL ARTICLE; DYSTONIA; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; METHYLMALONIC ACIDURIA; MITOCHONDRIAL DNA DEPLETION; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PUTAMEN; SIGNAL TRANSDUCTION; SUCLA2 GENE;

EID: 33947165311     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl389     Document Type: Article

References (29)

1. Angastiniotis M. Management of thalassemia in Cyprus. Birth Defects Orig Artic Ser 1992; 28: 38-43.
2. Angastiniotis M, Modell B, Englezos P, Boulyjenkov V. Prevention and control of haemoglobinopathies. Bull World Health Organ 1995; 73: 375-86.
3. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998; 11: 1-3.
4. Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, et al. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006; 27: 640-3.
5. Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, et al. Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat 2003; 21: 453-4.
6. Cha S, Parks R.E. Succinic thiokinase. I. Purification of the enzyme from pig heart. J Biol Chem 1964; 239: 1961-7.
7. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. [Review]. Am J Med Genet C Semin Med Genet 2006; 142: 104-12.
8. Deodato F, Brancati F, Valente EM, Carrozzo R, Di Rosa G, Boenzi S, et al. MAMEL (methylmalonic aciduria mitochondrial encephalopathy Leigh-like) a new mitochondrial encephalopathy. J Inher Metab Dis 2005; 28 Suppl 1: 130.
9. DiMauro S, Servidei S, Zeviani M, DiRocco M, De Vivo DC, DiDonato S, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987; 22: 498-506.
10. Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, et al. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab 2006; 88: 327-33.
11. Ekstein J, Katzenstein H. The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet 2001; 44: 297-310.
12. 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 2005; 76: 1081-6.
13. Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Am J Neuroradiol 2002; 23: 1095-110.
14. Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LTM, Ruitenbeek W, Smeitink JAM, et al. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 2006; 52: 860-71.
15. Johnson JD, Mehus JG, Tews K, Milavetz BI, Lambeth DO. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J Biol Chem 1998; 273: 27573-9.
16. Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem 2004; 279: 36621-4.
17. Longo D, Fariello G, Dionisi-Vici C, Cannata V, Boenzi S, Genovese E, et al. MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics 2005; 36: 366-72.
18. Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, et al. Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease? Eur J Pediatr 1996; 155: 398-403.
19. Mueller P, Schulze A, Schindler I, Ethofer T, Buehrdel P, Ceglarek U. Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults. Clin Chim Acta 2003; 327: 47-57.
20. Pithukpakorn M. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. [Review]. Mol Genet Metab 2005; 85: 243-6.
21. Rizzo C, Boenzi S, Wanders RJ, Duran M, Caruso U, Dionisi-Vici C. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Pediatr Res 2003; 53: 1013-8.
22. Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, et al. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet 2001; 9: 388-91.
23. Stromme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R. Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings - a new recessive syndrome? Clin Genet 1995; 48: 1-5.
24. Tarsy D, Simon DK. Dystonia. [Review]. N Engl J Med 2006; 355: 818-29.
25. Trinh BC, Melhem ER, Barker PB. Multi-slice proton MR spectroscopy and diffusion weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. Am J Neuroradiol 2001; 22: 831-3.
26. Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray Tandem-MS acylcarnitine analysis in plasma. Adv Exp Med Biol 1999; 466: 327-37.
27. 1H-NMR spectroscopy of blood plasma for metabolic studies. Clin Chem 1994; 40: 1245-50.
28. Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, et al. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis 2003; 26: 481-8.
29. Zeviani M, Di Donato S. Mitochondrial disorders. [Review]. Brain 2004; 127: 2153-72.