Inhibition of defective adenylosuccinate lyase by HNE: A neurological disease that may be affected by oxidative stress

BioFactors

Volumn 24, Issue 1-4, 2005, Pages 131-136

  Crifo C ^a   Siems, W ^b   Soro, S ^a   Salerno, C ^a,c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b Loges School of Physical Medicine   (Germany)

^c Laboratory of Clinical Biochemistry   (Italy)

Author keywords

Autism; Inherited disease; Lipid peroxidation; Psychomotor retardation; Purine metabolism

Indexed keywords

4 HYDROXYNONENAL; 5 AMINO 4 IMIDAZOLECARBOXAMIDE; 5 AMINOIMIDAZOLE 4 (N SUCCINYLCARBOXAMIDE); ADENYLOSUCCINATE LYASE; IMIDAZOLE DERIVATIVE; SUCCINIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; BIOACCUMULATION; BRAIN TISSUE; CHEMICAL STRUCTURE; CONCENTRATION RESPONSE; DEGENERATIVE DISEASE; DISEASE COURSE; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME DEGRADATION; ENZYME INHIBITION; EPILEPSY; HUMAN; MUSCLE ATROPHY; NERVOUS SYSTEM FUNCTION; NEUROLOGIC DISEASE; OXIDATIVE STRESS; PEROXIDATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN STABILITY; PSYCHOMOTOR RETARDATION; PURINE SYNTHESIS; RECURRENT DISEASE; SYMPTOM;

EID: 28644448115     PISSN: 09516433     EISSN: None     Source Type: Journal    
DOI: 10.1002/biof.5520240115     Document Type: Article

References (21)

1. F.A. van den Bergh, A.N. Bosschaart, G. Hageman, M. Duran and B. Tien Poll-The, Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death, Neuropediatrics 29 (1998), 51-53.
2. P.J. Casey and J.M. Lowenstein, Purification of adenylosuccinate lyase from rat skeletal muscle by a novel affinity column, Biochem. J. 246 (1987), 263-269.
3. F. Ciardo, C. Salerno and P. Curatolo, Neurologic aspects of adenylosuccinate lyase deficiency, J. Child Neurol. 16 (2001), 301-308.
4. J.T. Coyle and P. Puttfarcken, Oxidative stress, glutamate and neurodegenerative disorders, Science 262 (1993), 689-695.
5. O. Delattre, C.J. Azambuja, A. Aurias, J. Zucman, M. Peter, F. Zhang, M.C. Hors-Cayla, G. Rouleau and G. Thomas, Mapping of human chromosome 22 with a panel of somatic cell hybrids, Genomics 9 (1991), 721-727.
6. P. Edery, S. Chabrier, I. Ceballos-Picot, S. Marie, M.F. Vincent and M. Tardieu, Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients, Am. J. Med. Genet. 120A (2003), 185-190.
7. H. Esterbauer, R.J. Schaur and H. Zollner, Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes, Free Radic. Biol. Med. 11 (1991), 81-128.
8. T. Grune, W.G. Siems, J. Kowalewski and H. Esterbauer, Postischemic accumulation of lipid peroxidation product 4-hydroxynonenal in rat small intestine, Life Sci. 55 (1994), 693-699.
9. J. Jaeken, P. Casaer, P. de Cock and G. van den Berghe, The clinical aspects of ASase deficiency, in: Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism, U. Gresser, ed., Springer-Verlag, Berlin, 1993, pp. 140-143.
10. J. Jaeken, S.K. Wadman, M. Duran, F.J. van Sprang, F.A. Beemer, A. Holl, P.M. Theunissen, P. de Cock, F. van den Bergh, M.F. Vincent and G. van den Berghe, Adenylosuccinate lyase: An inborn error of purine nucleotide synthesis, Eur. J. Pediatr. 148 (1988), 126-131.
11. S. Kmoch, H. Hartmannova, B. Stiburkova, J. Krijt, M. Zikanova and I. Sebesta, 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. Molec. Genet. 9 (2000), 1501-1513.
12. V. Race, S. Marie, M.F. Vincent and G. van den Berghe, Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency, Hum. Mol. Genet. 9 (2000), 2159-2165.
13. C. Salerno and C. Crifò, Role of adenylosuccinate lyase in purine biosynthesis and interconversion: Molecular biology and genetic defects, Recent Res. Devel. Biochem. 4 (2003), 379-403.
14. C. Salerno and C. Crifò, Microassay of adenylosuccinase by capillary electrophoresis, Anal. Biochem. 226 (1995), 377-379.
15. C. Salerno, C. Crifò and O. Giardini, Adenylosuccinase deficiency: A patient with impaired erythrocyte activity and anomalous response to intravenous fructose, J. Inherit. Matab. Dis. 18 (1995), 602-608.
16. C. Salerno, S. Iotti, R. Lodi, C. Crifò and B. Barbiroli, Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency, Biochim. Biophys. Acta 1360 (1997), 271-276.
17. C. Salerno, W.G. Siems and C. Crifò, Succinylpurinemic autism: Increased sensitivity of defective adenylosuccinate lyase towards 4-hydroxy-2-nonenal, Biochim. Biophys. Acta 1500 (2000), 335-341.
18. E.A. Toth, C. Worby, J.E. Dixon, E.R. Goedken, S. Marqusee and T.O. Yeates, The crystal structure of adenylsuccinate lyase from Pyrobaculum aerophilum reveals an intracellular protein with three disulfide bonds. J. Mol. Biol. 301 (2000), 433-450.
19. E.A. Toth and T.O. Yeates, The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway, Structure Fold Des. 8 (2000), 163-174.
20. D. Verginelli, B. Luckow, C. Crifò, C. Salerno and M. Gross, Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells, Biochim. Biophys. Acta 1406 (1998), 81-84.
21. K. Zarkovic, 4-Hydroxynonenal and neurodegenerative diseases, Mol. Aspects Med. 24 (2003), 293-303.