Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia-relationship with COMT Val108/158 Met polymorphism, gender and symptomatology

Journal of Psychopharmacology

Volumn 25, Issue 7, 2011, Pages 888-895

  Boot, Erik ^a,b   Booij, Jan ^a   Abeling, Nico ^a   Meijer, Julia ^a   Da Silva Alves, Fabiana ^a   Zinkstok, Janneke ^a   Baas, Frank ^a   Linszen, Don ^a   Van Amelsvoort, Thérèse ^a,c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Ipse de Bruggen   (Netherlands)

^c Arkin Mental Health Care   (Netherlands)

Author keywords

22q11 deletion syndrome; catechol O methyltransferase polymorphism; dopamine; gender; PANSS; schizophrenia

Indexed keywords

ARIPIPRAZOLE; ATOMOXETINE; CATECHOL METHYLTRANSFERASE; CLOZAPINE; DOPAMINE; HOMOVANILLIC ACID; METHIONINE; METHYLPHENIDATE; OLANZAPINE; PROLACTIN; QUETIAPINE; RISPERIDONE; VALINE; ZUCLOPENTHIXOL;

ADULT; ARTICLE; BLOOD ANALYSIS; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; COMT GENE; CONTROLLED STUDY; DOPAMINE METABOLISM; FEMALE; GENE; GENETIC POLYMORPHISM; GENOTYPE; HEMIZYGOSITY; HUMAN; MALE; POSITIVE AND NEGATIVE SYNDROME SCALE; PRIORITY JOURNAL; SCHIZOPHRENIA; SEX DIFFERENCE; SYMPTOMATOLOGY; URINALYSIS;

ADOLESCENT; ADULT; ANTIPSYCHOTIC AGENTS; CATECHOL O-METHYLTRANSFERASE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DOPAMINE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; NETHERLANDS; PHENOTYPE; POLYMORPHISM, GENETIC; PSYCHIATRIC STATUS RATING SCALES; RISK ASSESSMENT; RISK FACTORS; SCHIZOPHRENIA; SCHIZOPHRENIC PSYCHOLOGY; SEX FACTORS; YOUNG ADULT;

EID: 80051958061     PISSN: 02698811     EISSN: 14617285     Source Type: Journal    
DOI: 10.1177/0269881111400644     Document Type: Article

References (52)

1. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Washington, DC.
2. Amin F, Davidson M, Davis KL. Homovanillic acid measurement in clinical research: a review of methodology. Schizophr Bull. 1992 ; 18: 123-148
3. Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D. COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol Psychiatry. 2005 ; 58: 23-31 (Pubitemid 40909932)
4. Baker K, Skuse DH. Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry. 2005 ; 186: 115-120 (Pubitemid 40193779)
5. Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry. 2003 ; 160: 1580-1586 (Pubitemid 41079542)
6. Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry. 2007 ; 61: 1135-1140 (Pubitemid 46669459)
7. Boot E, Booij J, Zinkstok J, et al. Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome. Neuropsychopharmacology. 2008 ; 33: 1252-1258 (Pubitemid 351521716)
8. Boot E, Booij J, Zinkstok J, et al. (2010) Striatal D2 receptor binding in 22q11 deletion syndrome: an [123I]IBZM SPECT study. J Psychopharmacol 24: 1525-1531.
9. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003 ; 112: 101-107 (Pubitemid 36792936)
10. Bjørnerem Å, Straume B, Midtby M, et al. Endogenous sex hormones in relation to age, sex, lifestyle factors, and chronic diseases in a general population: The Tromsø Study. J Clin Endocrinol Metab. 2004 ; 89: 6039-6047 (Pubitemid 39628412)
11. Canavan A, Dunn G, McMillan TM. Principal components of the WAIS-R. J Clin Psychol. 1986 ; 25: 81-85 (Pubitemid 16111316)
12. Chen J, Lipska BK, Halim N, et al. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet. 2004 ; 75: 807-821 (Pubitemid 39390488)
13. Chow EW, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biol Psychiatry. 1999 ; 46: 1436-1442
14. Coman IL, Gnirke MH, Middleton FA, et al. (2010) The effects of gender and catechol-O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): an fMRI study. Neuroimage 53: 1043-1050.
15. Davidson M, Davis KL. A comparison of plasma homovanillic acid concentrations in schizophrenic patients and normal controls. Arch Gen Psychiatry. 1988 ; 45: 561-563
16. Davis KL, Davidson M, Mohs RC, et al. Plasma homovanillic acid concentration and the severity of schizophrenic illness. Science. 1985 ; 227: 1601-1602 (Pubitemid 15119471)
17. Dunham I, Collins J, Wadey R, Scambler P. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet. 1992 ; 340: 1361-1362
18. Ferrier IN, Johnstone EC, Crow TJ. Hormonal effects of apomorphine in schizophrenia. Br J Psychiatry. 1984 ; 144: 349-357 (Pubitemid 14171548)
19. Gothelf D, Eliez S, Thompson T, et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005 ; 8: 1500-1502 (Pubitemid 41573663)
20. Gothelf D, Michaelovsky E, Frisch A, et al. Association of the low-activity COMT158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome. Int J Neuropsychopharmacol. 2007 ; 10: 301-308 (Pubitemid 46701002)
21. Gothelf D, Schaer M, Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev Disabil Res Rev. 2008 ; 14: 59-68 (Pubitemid 351716524)
22. Haddad PM, Wieck A. Antipsychotic-induced hyperprolactinaemia: mechanisms, clinical features and management. Drugs. 2004 ; 64: 2291-2314 (Pubitemid 39388605)
23. Halbreich U, Kahn LS. Hormonal aspects of schizophrenias: an overview. Psychoneuroendocrinology. 2003 ; 28(Suppl.2): 1-16 (Pubitemid 36332228)
24. Harrison PJ, Tunbridge EM. Catechol-O-methyltransferase (COMT): a gene contributing to sex differences in brain function, and to sexual dimorphism in the predisposition to psychiatric disorders. Neuropsychopharmacology. 2008 ; 33: 3037-3045
25. Hirvonen MM, Någren K, Rinne JO, et al. COMT Val158Met Genotype Does Not Alter Cortical or Striatal Dopamine D2 Receptor Availability. In Vivo. Mol Imaging Biol. 2010 ; 12: 192-197
26. Howes OD, Montgomery AJ, Asselin MC, et al. Elevated striatal dopamine function linked to prodromal signs of schizophrenia. Arch Gen Psychiatry. 2009 ; 66: 13-20
27. Johnstone EC, Crow TJ, Mashiter K. Anterior pituitary hormone secretion in chronic schizophrenia-an approach to neurohumoral mechanisms. Psychol Med. 1977 ; 7: 223-228 (Pubitemid 8126755)
28. Kane JM, Leucht S, Carpenter D, Docherty JP. The expert consensus guideline series. Optimizing pharmacologic treatment of psychotic disorders. Introduction: methods, commentary, and summary. J Clin Psychiatry. 2003 ; 64 (Suppl. 12). 5-19
29. Kates WR, Antshel KM, Abdulsabur N, et al. (2006) A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome). Am J Med Genet B Neuropsychiatr Genet 141B: 274-280.
30. Kay SR, Fiszbein A, Opler LA. The positive and negative syndrome scale (PANSS) for schizophrenia. Schizophr Bull. 1987 ; 13: 261-276 (Pubitemid 18039085)
31. Kirch DG, Jaskiw G, Linnoila M, Weinberger DR, Wyatt RJ. Plasma amine metabolites before and after withdrawal from neuroleptic treatment in chronic schizophrenic inpatients. Psychiatry Res. 1988 ; 25: 233-242
32. Kleinman JE, Weinberger DR, Rogol AD, et al. Plasma prolactin concentrations and psychopathology in chronic schizophrenia. Arch Gen Psychiatry. 1982 ; 39: 655-657 (Pubitemid 12078958)
33. Koreen AR, Lieberman J, Alvir J, et al. Plasma homovanillic acid levels in first-episode schizophrenia. Psychopathology and treatment response. Arch Gen Psychiatry. 1994 ; 51: 132-138 (Pubitemid 24054315)
34. Marcelis M, Suckling J, Hofman P, Woodruff P, Bullmore E, van Os J. Evidence that brain tissue volumes are associated with HVA reactivity to metabolic stress in schizophrenia. Schizophr Res. 2006 ; 86: 45-53 (Pubitemid 44251276)
35. Murphy KC. Schizophrenia and velo-cardio-facial syndrome. Lancet. 2002 ; 359: 426-430 (Pubitemid 34158957)
36. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999 ; 56: 940-945 (Pubitemid 29480131)
37. Newcomer JW, Riney SJ, Vinogradov S, Csernansky JG. Plasma prolactin and homovanillic acid as markers for psychopathology and abnormal movements during maintenance haloperidol treatment in male patients with schizophrenia. Psychiatry Res. 1992 ; 41: 191-202
38. Paterlini M, Zakharenko SS, Lai WS, et al. Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci. 2005 ; 8: 1586-1594 (Pubitemid 41573674)
39. Pickar D, Labarca R, Doran AR, et al. Longitudinal measurement of plasma homovanillic acid levels in schizophrenic patients. Correlation with psychosis and response to neuroleptic treatment. Arch Gen Psychiatry. 1986 ; 43: 669-676
40. Raux G, Bumsel E, Hecketsweiler B, et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet. 2007 ; 16: 83-91 (Pubitemid 46152546)
41. Sharma R, Javaid JI, Janicak P, Faull K, Comaty J, Davis JM. Plasma and CSF HVA before and after pharmacological treatment. Psychiatry Res. 1989 ; 28: 97-104 (Pubitemid 19123222)
42. Slifstein M, Kolachana B, Simpson EH, et al. COMT genotype predicts cortical-limbic D1 receptor availability measured with [11C]NNC112 and PET. Mol Psychiatry. 2008 ; 13: 821-827 (Pubitemid 352032110)
43. Stoddard J, Niendam T, Hendren , et al. Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophr Res. 2010 ; 118: 118-121
44. Sumiyoshi T, Hasegawa M, Jayathilake K, Meltzer HY. Sex differences in plasma homovanillic acid levels in schizophrenia and normal controls: relation to neuroleptic resistance. Biol Psychiatry. 1997 ; 41: 560-566 (Pubitemid 27145542)
45. Tanner JJ. Structural biology of proline catabolism. Amino Acids. 2008 ; 35: 719-730
46. Tunbridge EM, Harrison PJ and Weinberger DR (2006) Catechol-O- methyltransferase, cognition, and psychosis: Val(158)Met and beyond. Biol Psychiatry 60: 141-151.
47. Tunbridge, EM, Weickert CS, Kleinman JE, et al. (2007) Catechol-o-Methyltransferase enzyme activity and protein expression in human prefrontal cortex across the postnatal lifespan. Cerebral Cortex 17: 1206-1212. (Pubitemid 46598863)
48. van Amelsvoort T, Zinkstok J, Figee M, et al. Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome. Psychol Med. 2008 ; 38: 89-100 (Pubitemid 350275204)
49. van Amelsvoort T, Boot E, Booij J, Zinkstok J, Baas F, Linszen D. COMT Met hemizygotes have lower D2/3 receptor binding than Val hemizygotes- preliminary results in adults with 22q11 deletion syndrome. Schizophr Res. 2010 ; 117: 250-251
50. Vogels A, Verhoeven WM, Tuinier S, et al. The psychopathological phenotype of velo-cardio-facial syndrome. Ann Genet. 2002 ; 45: 89-95 (Pubitemid 34823867)
51. Vorstman JA, Turetsky BI, Sijmens-Morcus ME, et al. Proline affects brain function in 22q11DS children with the low activity COMT158 allele. Neuropsychopharmacology. 2009 ; 34: 739-746
52. Whelton CL, Gupta RN, Cleghorn JM, Ballagh SR. Influence of renal clearance on peripheral homovanillic acid measurements in healthy subjects and schizophrenic patients. Schizophr Res. 1993 ; 11: 33-40 (Pubitemid 23363163)