A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 983-987

  Shafqat, Naeem ^a   Kavanagh, Kate L ^a   Sass, Jörn Oliver ^b,c   Christensen, Ernst ^d   Fukao, Toshiyuki ^e   Lee, Wen Hwa ^a   Oppermann, Udo ^a,f   Yue, Wyatt W ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d University of Copenhagen   (Denmark)

^e GIFU UNIVERSITY   (Japan)

^f NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINYL COENZYME A 3 KETOACID COENZYME A TRANSFERASE; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME STRUCTURE; GENE INSERTION; GENE MUTATION; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; SUCCINYL COENZYME A 3 KETOACID COENZYME A TRANSFERASE DEFICIENCY;

ACIDOSIS; COENZYME A-TRANSFERASES; CRYSTALLOGRAPHY, X-RAY; DNA MUTATIONAL ANALYSIS; HUMANS; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN INTERACTION MAPS; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, SECONDARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84888205302     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9589-z     Document Type: Article

References (27)

1. Alkén J (2008) Glucose and ketone body metabolism - with emphasis on ketotic hypoglycemia. Ph.D. Thesis, Karolinska Institutet, Stockholm
2. Bateman KS, Brownie ER, Wolodko WT, Fraser ME (2002) Structure of the mammalian CoA transferase from pig heart. Biochemistry 41:14455-14462
3. Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ (2001) Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis 24:587-595
4. CCP4 (1994) The CCP4 suite: programs for protein crystallography. Acta Crystallogr D: Biol Crystallogr 50:760-763
5. Emsley P, Cowtan K (2004) Coot: model-building tools for molecular graphics. Acta Crystallogr D: Biol Crystallogr 60:2126-2132
6. Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N (1997) Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42:498-502
7. Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N (2000) Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 68:144-151
8. Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N (2004) Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Pediatr Res 56:858-863
9. Fukao T, Kursula P, Owen EP, Kondo N (2007) Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab 92:216-221
10. Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T (2010) A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220-I222dup mutations in the OXCT1 gene. J Inherit Metab Dis doi: 10.1007/s10545-010-9168-5
11. Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N (2011) Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta 1812:619-624
12. Heider J (2001) A new family of CoA-transferases. FEBS Lett 509:345-349
13. Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Perez-Cerda C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA (1996) Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am J Hum Genet 59:519-528
14. Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM (2004) Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J Inherit Metab Dis 27:691-692
15. McCoy AJ, Grosse-Kunstleve RW, Storoni LC, Read RJ (2005) Likelihood-enhanced fast translation functions. Acta Crystallogr D: Biol Crystallogr 61:458-464
16. Mitchell GA, Fukao T (2001) Inborn errors of ketone body catabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2327-2356
17. Murshudov GN, Vagin AA, Dodson EJ (1997) Refinement of macromolecular structures by the maximum-likelihood method. Acta Crystallogr D: Biol Crystallogr 53:240-255
18. Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP (1997) Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr 156:870-873
19. Perrakis A, Harkiolaki M, Wilson KS, Lamzin VS (2001) ARP/wARP and molecular replacement. Acta Crystallogr D: Biol Crystallogr 57:1445-1450
20. Sakazaki H, Hirayama K, Murakami S, Yonezawa S, Shintaku H, Sawada Y, Fukao T, Watanabe H, Orii T, Isshiki G (1995) A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency. J Inherit Metab Dis 18:323-325
21. Sass JO (2012) Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis 35:23-28
22. Snyderman SE, Sansaricq C, Middleton B (1998) Succinyl-CoA:3-ketoacid CoA-transferase deficiency. Pediatrics 101:709-711
23. Solomon F, Jencks WP (1969) Identification of an enzyme-gamma-glutamyl coenzyme A intermediate from coenzyme A transferase. J Biol Chem 244:1079-1081
24. Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA (1998) Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum Mutat 12:83-88
25. Tanaka H, Kohroki J, Iguchi N, Onishi M, Nishimune Y (2002) Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA. Mol Hum Reprod 8:16-23
26. Williamson DH, Bates MW, Page MA, Krebs HA (1971) Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues. Biochem J 121:41-47
27. Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N (2007) Single-base substitution at the last nucleotide of exon 6 (c.671 G > A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab 90:291-297