Biochemical and structural analysis of 14 mutant ADSL enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

Human Mutation

Volumn 31, Issue 4, 2010, Pages 445-455

  Zikanova, Marie ^a   Skopova, Vaclava ^a   Hnizda, Ales ^a   Krijt, Jakub ^a   Kmoch, Stanislav ^a  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

Author keywords

Adenylosuccinate lyase; Adsl deficiency; De novo purine synthesis; Intersubunit complementation; Phenotype heterogeneity; Purine nucleotide cycle

Indexed keywords

ADENYLOSUCCINATE LYASE; MUTANT PROTEIN;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; ENZYME STRUCTURE; ENZYME SUBSTRATE; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADENYLOSUCCINATE LYASE; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENZYME STABILITY; GENETIC HETEROGENEITY; HUMANS; INFANT, NEWBORN; MULTIENZYME COMPLEXES; MUTANT PROTEINS; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 77950383830     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21212     Document Type: Article

References (34)

1. An S, Kumar R, Sheets ED, Benkovic SJ. 2008. Reversible compartmentalization of de novo purine biosynthetic complexes in living cells. Science 320:103-106.
2. Ariyananda Lde Z, Lee P, Antonopoulos C, Colman RF. 2009. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. Biochemistry 48:5291-5302.
3. Brosius JL, Colman RF. 2002. Three subunits contribute amino acids to the active site of tetrameric adenylosuccinate lyase: Lys268 and Glu275 are required. Biochemistry 41:2217-2226.
4. Ciardo F, Salerno C, Curatolo P. 2001. Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol 16:301-308.
5. Flanagan WF, Holmes EW, Sabina RL, Swain JL. 1986. Importance of purine nucleotide cycle to energy production in skeletal muscle. Am J Physiol 251 (5 Pt 1):C795-C802.
6. Fon EA, Demczuk S, Delattre O, Thomas G, Rouleau GA. 1993. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2. Cytogenet Cell Genet 64:201-203.
7. Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. 2009. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 17:133-136.
8. Jaeken J, Van den Berghe G. 1984. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2:1058-1061.
9. Jaeken J, Wadman SK, Duran M, Van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, Van den Bergh F, Vincent MF, Van den Berghe G. 1988. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148:126-131.
10. Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G. 1992. Adenylosuccinase deficiency: a newly recognized variant. J Inherit Metab Dis 15:416-418.
11. Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. 2008. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab 94:435-442.
12. Kmoch S, Hartmannova H, Stiburkova B, Krijt J, Zikanova M, Sebesta I. 2000. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Hum Mol Genet 9:1501-1513.
13. Krijt J, Kmoch S, Hartmannova H, Havlicek V, Sebesta I. 1999. Identification and determination of succinyladenosine in human cerebrospinal fluid. J Chromatogr B Biomed Sci Appl 726:53-58.
14. Lee TT, Worby C, Bao ZQ, Dixon JE, Colman RF. 1999. His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis. Biochemistry 38:22-32.
15. Maaswinkel-Mooij PD, Laan LA, Onkenhout W, Brouwer OF, Jaeken J, Poorthuis BJ. 1997. Adenylosuccinase deficiency presenting with epilepsy in early infancy. J Inherit Metab Dis 20:606-607.
16. Mouchegh K, Zikanova M, Hoffmann GF, Kretzschmar B, Kuhn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvorakova L, Honzik T, Zeman J, Kmoch S, Rossi R. 2007. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J Pediatr 150:57-61 e2.
17. Pinson B, Vaur S, Sagot I, Coulpier F, Lemoine S, Daignan-Fornier B. 2009. Metabolic intermediates selectively stimulate transcription factor interaction and modulate phosphate and purine pathways. Genes Dev 23:1399-1407.
18. Race V, Marie S, Vincent MF, Van Den Berghe G. 2000. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 9:2159-2165.
19. Rebora K, Desmoucelles C, Borne F, Pinson B, Daignan-Fornier B. 2001. Yeast AMP pathway genes respond to adenine through regulated synthesis of a metabolic intermediate. Mol Cell Biol 21:7901-7912.
20. Rebora K, Laloo B, Daignan-Fornier B. 2005. Revisiting purine-histidine cross-pathway regulation in Saccharomyces cerevisiae: a central role for a small molecule. Genetics 170:61-70.
21. Sivendran S, Patterson D, Spiegel E, McGown I, Cowley D, Colman RF. 2004. Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL. J Biol Chem 279:53789-55397.
22. Spiegel EK, Colman RF, Patterson D. 2006. Adenylosuccinate lyase deficiency. Mol Genet Metab 89:19-31.
23. Stone TW, Roberts LA, Morris BJ, Jones PA, Ogilvy HA, Behan WM, Duley JA, Simmonds HA, Vincent MF, van den Berghe G. 1998. Succinylpurines induce neuronal damage in the rat brain. Adv Exp Med Biol 431:185-189.
24. Strohalm M, Hassman M, Kosata B, Kodicek M. 2008. mMass data miner: an open source alternative for mass spectrometric data analysis. Rapid Commun Mass Spectrom 22:905-908.
25. Swain JL, Hines JJ, Sabina RL, Harbury OL, Holmes EW. 1984. Disruption of the purine nucleotide cycle by inhibition of adenylosuccinate lyase produces skeletal muscle dysfunction. J Clin Invest 74:1422-1427.
26. Valik D, Miner PT, Jones JD. 1997. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Pediatr Neurol 16:252-255.
27. Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G. 1993. Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. J Inherit Metab Dis 16:415-424.
28. Van den Berghe G, Bontemps F, Vincent MF, Van den Bergh F. 1992. The purine nucleotide cycle and its molecular defects. Prog Neurobiol 39:547-561.
29. Van den Berghe G, Jaeken J. 1986. Adenylosuccinase deficiency. Adv Exp Med Biol 195(Pt A):27-33.
30. Van Keuren ML, Hart IM, Kao FT, Neve RL, Bruns GA, Kurnit DM, Patterson D. 1987. A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet 44:142-147.
31. Watts RW. 1983. Some regulatory and integrative aspects of purine nucleotide biosynthesis and its control: an overview. Adv Enzyme Regul 21:33-51.
32. Wittig I, Braun HP, Schagger H. 2006. Blue native PAGE. Nat Protoc 1:418-428.
33. Yu B, Howell PL. 2000. Intragenic complementation and the structure and function of argininosuccinate lyase. Cell Mol Life Sci 57:1637-1651.
34. Zikanova M, Krijt J, Hartmannova H, Kmoch S. 2005. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N- succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. J Inherit Metab Dis 28:493-499.