Association of adenosine deaminase polymorphism with mild mental retardation

Journal of Child Neurology

Volumn 21, Issue 9, 2006, Pages 753-756

  Saccucci, Patrizia ^a   Arpino, Carla ^a   Rizzo, Renata ^b   Gagliano, Antonella ^c   Volzone, Anna ^a   Lalli, Cristina ^a   Galasso, Cinzia ^a   Curatolo, Paolo ^a,d  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CAUCASIAN; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; WECHSLER INTELLIGENCE SCALE;

ADENOSINE DEAMINASE; CASE-CONTROL STUDIES; CHILD; DISABLED CHILDREN; HAPLOTYPES; HUMANS; MENTAL RETARDATION; POLYMORPHISM, GENETIC; REFERENCE VALUES; SEVERITY OF ILLNESS INDEX;

EID: 33750686022     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210091201     Document Type: Article

References (28)

1. Gillberg C, Soderstrom H: Learning disability. Lancet 2003;362: 811-821.
2. Roeleveld N, Zielhuis GA, Gabreels F: The prevalence of mental retardation: A critical review of recent literature. Dev Med Child Neurol 1997;39:125-132.
3. World Health Organization, Division of Mental Health and Prevention of Substance Abuse, ICD-10 Guide for Mental Retardation, Geneva, Division of Mental Health and Prevention of Substance Abuse, World Health Organization, 1996.
4. American Association on Mental Retardation, Mental Retardation: Definition, Classification, and Systems of Supports, Washington, DC, American Association on Mental Retardation, 1992.
5. American Psychiatric Association Task Force on DSM-IV, Diagnostic and Statistical Manual of Mental Disorders: DSM-IV, Washington, DC, American Psychiatric Association, 1994.
6. Chiurazzi P, Oostra BA: Genetics of mental retardation. Curr Opin Pediatr 2000;12:529-535.
7. Gillberg C: Practitioner review: Physical investigations in mental retardation. J Child Psychol Psychiatry 1997;38:889-897.
8. Inlow JK, Restifo LL: Molecular and comparative genetics of mental retardation. Genetics 2004;166:835-881.
9. Resta R, Thompson LF: SCID: The role of adenosine deaminase deficiency. Immunol Today 1997;18:371-374.
10. Franco R, Casado V, Ciruela F, et al: Cell surface adenosine dearmnase: Much more than an ectoenzyme. Prog Neurobiol 1997;52:283-294.
11. Ruiz MA, Escriche M, Lluis C, et al: Adenosine A(1) receptor in cultured neurons from rat cerebral cortex: Colocalization with adenosine deaminase. J Neurochem 2000;75:656-664.
12. Rebola N, Rodrigues RJ, Oliveira CR, et al: Different roles of adenosine A(1), A(2A) and A(3) receptors in controlling kainate-induced toxicity in cortical cultured neurons. Neurochem Int 2005;47:317-325.
13. Wechsler D: Wechsler Preschool and Primary Scale of Intelligence-Revised. New York, Psychological Corporation, 1989.
14. Wechsler D: Wechsler Intelligence Scale For Children, Third Edition. New York, Psychological Corporation, 1991.
15. Wechsler D: Wechsler Adult Intelligence Scale, Third Edition, New York, Psychological Corporation, 1997.
16. Roid GH, Miller LJ, Lieter RG: Leiter International Performance Scale-Revised: Examiner's Manual, Wood Dale, IL, Stoelting, 1997.
17. Sparrow SS, Balla DA, Cicchetti DV: Vineland Adaptive Behavior Scales-Expanded Form, Circle Pines, MN, American Guidance Service, 1984.
18. Hirschhorn R, Yang DR, Israni A: An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): Occurrence on different chromosomal backgrounds and apparent intragenic crossover. Ann Hum Genet 1994;58 (Pt 1):1-9.
19. Franco R, Valenzuela A, Lluis C, et al: Enzymatic and extraenzymatic role of ecto-adenosine deaminase im lymphocytes. Immunol Rev 1998;161:27-42.
20. Ciruela F, Saura C, Canela EI, et al: Adenosine deaminase affects ligand-induced signalling by interacting with cell surface adenosine receptors. FEBS Lett 1996;380:219-223.
21. Saura CA, Mallol J, Canela EI, et al: Adenosine deaminase and A1 adenosine receptors internalize together following agonist-induced receptor desensitization. J Biol Chem 1998;273:17610-17617.
22. Curto R, Voit EO, Cascante M: Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man. Biochem J 1998;329(Pt 3):477-487.
23. Vidotto C, Fousert D, Akkermann M, et al: Purine and pyrimidine metabolites in children's urine. Clin Chim Acta 2003;335: 27-32.
24. Bottini N, De Luca D, Saccucci P, et al: Autism: Evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 2001;3:1l1-113.
25. Lucarelli P, Saccucci P, Bottini N, et al: Two-loci ADA haplotypes in autistic disorder. Am J Med Genet 2002;108:339-340.
26. Persico AM, Militerni R, Bravaccio C, et al: Adenosine deaminase alleles and autistic disorder: Case-control and family-based association studies. Am J Med Genet 2000;96:784-790.
27. Stubbs G, Litt M, Lis E, et al: Adenosine deaminase activity decreased in autism. J Am Acad Child Psychiatry 1982;21:71-74.
28. Johnston MV: Brain plasticity in paediatric neurology. Eur J Paediatr Neurol 2003;7:105-113.