Schizophrenia-like neurophysiological abnormalities in 22q11.2 deletion syndrome and their association to COMT and PRODH genotypes

Journal of Psychiatric Research

Volumn 47, Issue 11, 2013, Pages 1623-1629

  Zarchi, Omer ^a,b,c   Carmel, Miri ^c   Avni, Chen ^c   Attias, Josef ^b,d   Frisch, Amos ^c   Michaelovsky, Elena ^c   Patya, Miriam ^c   Green, Tamar ^c,e   Weinberger, Ronnie ^a   Weizman, Abraham ^c,f   Gothelf, Doron ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF HAIFA   (Israel)

^e BEER YAAKOV MENTAL HEALTH CENTER   (Israel)

^f GEHA MENTAL HEALTH CENTER   (Israel)

Author keywords

22q11.2DS; Catechol O methyltransferase; Endophenotype; Mismatch negativity; Proline dehydrogenase; Sensory gating

Indexed keywords

ARGININE; CATECHOL METHYLTRANSFERASE; GLUTAMINE; METHIONINE; PROLINE; PROLINE DEHYDROGENASE; PROTEIN P50; TRYPTOPHAN; VALINE;

22Q11.2 DELETION SYNDROME; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME DELETION; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; ENDOPHENOTYPE; EXECUTIVE FUNCTION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL PATIENT; MISMATCH NEGATIVITY; NEGATIVE SYNDROME; NEUROPHYSIOLOGY; NEUROPSYCHOLOGICAL TEST; PATIENT PARTICIPATION; PRIORITY JOURNAL; RISK FACTOR; SCHIZOPHRENIA; SENSORY GATING; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY;

22Q11.2DS; CATECHOL O-METHYLTRANSFERASE; ENDOPHENOTYPE; MISMATCH NEGATIVITY; PROLINE DEHYDROGENASE; SENSORY GATING;

22Q11 DELETION SYNDROME; ACOUSTIC STIMULATION; ADOLESCENT; ADULT; CATECHOL O-METHYLTRANSFERASE; CHILD; CONTINGENT NEGATIVE VARIATION; ENDOPHENOTYPES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROLINE OXIDASE; SCHIZOPHRENIA; SENSORY GATING; YOUNG ADULT;

EID: 84884412750     PISSN: 00223956     EISSN: 18791379     Source Type: Journal    
DOI: 10.1016/j.jpsychires.2013.07.004     Document Type: Article

References (43)

1. Adler L.E., Olincy A., Waldo M., Harris J.G., Griffith J., Stevens K., et al. Schizophrenia, sensory gating, and nicotinic receptors. Schizophrenia Bulletin 1998, 24:189-202.
2. Adler L.E., Rose G., Freedman R. Neurophysiological studies of sensory gating in rats: effects of amphetamine, phencyclidine, and haloperidol. Biological Psychiatry 1986, 21:787-798.
3. Antshel K.M., Shprintzen R., Fremont W., Higgins A.M., Faraone S.V., Kates W.R. Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry 2010, 49:333-344.
4. Baker K., Baldeweg T., Sivagnanasundaram S., Scambler P., Skuse D. COMT Val108/158Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biological Psychiatry 2005, 58:23-31.
5. Bender H.U., Almashanu S., Steel G., Hu C.A., Lin W.W., Willis A., et al. Functional consequences of PRODH missense mutations. The American Journal of Human Genetics 2005, 76:409-420.
6. Chen J., Lipska B.K., Halim N., Ma Q.D., Matsumoto M., Melhem S., et al. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. The American Journal of Human Genetics 2004, 75:807-821.
7. Clementz B.A., Geyer M.A., Braff D.L. Poor P50 suppression among schizophrenia patients and their first-degree biological relatives. The American Journal of Psychiatry 1998, 155:1691-1694.
8. Davidson M.C., Amso D., Anderson L.C., Diamond A. Development of cognitive control and executive functions from 4 to 13 years: evidence from manipulations of memory, inhibition, and task switching. Neuropsychologia 2006, 44:2037-2078.
9. De Bruin N., Ellenbroek B.A., Cools A.R., Coenen A.M.L., Van Luijtelaar E. Differential effects of ketamine on gating of auditory evoked potentials and prepulse inhibition in rats. Psychopharmacology (Berl) 1999, 142:9-17.
10. de Koning M.B., Boot E., Bloemen O.J.N., van Duin E.D.A., Abel K.M., de Haan L., et al. Startle reactivity and prepulse inhibition of the acoustic startle response are modulated by catechol-O-methyl-transferase Val158 Met polymorphism in adults with 22q11 deletion syndrome. Journal of Psychopharmacology (Oxf) 2012, 26:1548-1560.
11. Duijff S.N., Klaassen P.W.J., de Veye H.F.N.S., Beemer F.A., Sinnema G., Vorstman J.A.S. Cognitive development in children with 22q11.2 deletion syndrome. The British Journal of Psychiatry 2012, 200:462-468.
12. First M.B., Gibbon M., Spitzer R.L., Williams J.B.W. User's guide for the structured clinical interview for DSM-IV axis I disorders-research version 1996, SCID-I, version 2.
13. Freedman R., Adler L.E., Myles-Worsley M., Nagamoto H.T., Miller C., Kisley M., et al. Inhibitory gating of an evoked response to repeated auditory stimuli in schizophrenic and normal subjects: human recordings, computer simulation, and an animal model. Archives of General Psychiatry 1996, 53:1114-1121.
14. Freedman R., Adler L.E., Waldo M. Gating of the auditory evoked potential in children and adults. Psychophysiology 1987, 24:223-227.
15. Gomot M., Giard M.H., Roux S., Barthélémy C., Bruneau N. Maturation of frontal and temporal components of mismatch negativity (MMN) in children. Neuroreport 2000, 11:3109-3112.
16. Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nature Neuroscience 2005, 8:1500-1502.
17. Gothelf D., Schaer M., Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews 2008, 14:59-68.
18. Henzi V., Reichling D.B., Helm S.W., MacDermott A.B. l-proline activates glutamate and glycine receptors in cultured rat dorsal horn neurons. Molecular Pharmacology 1992, 41:793-801.
19. Javitt D.C., Shelley A.M., Ritter W. Associated deficits in mismatch negativity generation and tone matching in schizophrenia. Clinical Neurophysiology 2000, 111:1733-1737.
20. Javitt D.C., Steinschneider M., Schroeder C.E., Arezzo J.C. Role of cortical N-methyl-D-aspartate receptors in auditory sensory memory and mismatch negativity generation: implications for schizophrenia. Proceedings of the National Academy of Sciences 1996, 93:11962-11967.
21. Kaufman J., Birmaher B., Brent D., Rao U. Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K- SADS-PL): initial reliability and validity data. Journal of the American Academy of Child and Adolescent Psychiatry 1997, 36:980-988.
22. Kay S.R., Fiszbein A., Opfer L.A. The positive and negative syndrome scale (PANSS) for schizophrenia. Schizophrenia Bulletin 1987, 13:261-276.
23. Kempf L., Nicodemus K.K., Kolachana B., Vakkalanka R., Verchinski B.A., Egan M.F., et al. Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function. PLoS Genetics 2008, 4:e1000252.
24. Lu B.Y., Martin K.E., Edgar J.C., Smith A.K., Lewis S.F., Escamilla M.A., et al. Effect of catechol O-methyltransferase Val158Met polymorphism on the P50 gating endophenotype in schizophrenia. Biological Psychiatry 2007, 62:822-825.
25. Mann C., Croft R.J., Scholes K.E., Dunne A., O'Neill B.V., Leung S., et al. Differential effects of acute serotonin and dopamine depletion on prepulse inhibition and P50 suppression measures of sensorimotor and sensory gating in humans. Neuropsychopharmacology 2007, 33:1653-1666.
26. Marshall P.J., Bar-Haim Y., Fox N.A. The development of P50 suppression in the auditory event-related potential. International Journal of Psychophysiology 2004, 51:135-141.
27. Michaelovsky E., Frisch A., Carmel M., Patya M., Zarchi O., Green T., et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Medical Genetics 2012, 13:122.
28. Michie P.T. What has MMN revealed about the auditory system in schizophrenia?. International Journal of Psychophysiology 2001, 42:177-194.
29. Molholm S., Martinez A., Ritter W., Javitt D.C., Foxe J.J. The neural circuitry of pre-attentive auditory change-detection: an fMRI study of pitch and duration mismatch negativity generators. Cerebral Cortex 2005, 15:545-551.
30. Moxon K.A., Gerhardt G.A., Adler L.E. Dopaminergic modulation of the P50 auditory-evoked potential in a computer model of the CA3 region of the hippocampus: its relationship to sensory gating in schizophrenia. Biological Cybernetics 2003, 88:265-275.
31. Näätänen R., Gaillard A.W.K., Mäntysalo S. Early selective-attention effect on evoked potential reinterpreted. Acta Psychologica 1978, 42:313-329.
32. Näätänen R., Pakarinen S., Rinne T., Takegata R. The mismatch negativity (MMN): towards the optimal paradigm. Clinical Neurophysiology 2004, 115:140-144.
33. Nagamoto H.T., Adler L.E., Waldo M.C., Freedman R. Sensory gating in schizophrenics and normal controls: effects of changing stimulation interval. Biological Psychiatry 1989, 25:549-561.
34. Paterlini M., Zakharenko S.S., Lai W.S., Qin J., Zhang H., Mukai J., et al. Transcriptional and behavioral interaction between 22q11. 2 orthologs modulates schizophrenia-related phenotypes in mice. Nature Neuroscience 2005, 8:1586-1594.
35. Raux G., Bumsel E., Hecketsweiler B., Van Amelsvoort T., Zinkstok J., Manouvrier-Hanu S., et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Human Molecular Genetics 2007, 16:83-91.
36. Salisbury D.F., Shenton M.E., Griggs C.B., Bonner-Jackson A., McCarley R.W. Mismatch negativity in chronic schizophrenia and first-episode schizophrenia. Archives of General Psychiatry 2002, 59:686-694.
37. Shafer V.L., Morr M.L., Kreuzer J.A., Kurtzberg D. Maturation of mismatch negativity in school-age children. Ear and Hearing 2000, 21:242-251.
38. Sobin C., Kiley-Brabeck K., Karayiorgou M. Lower prepulse inhibition in children with the 22q11 deletion syndrome. The American Journal of Psychiatry 2005, 162:1090-1099.
39. Vorstman J.A.S., Jalali G.R., Rappaport E.F., Hacker A.M., Scott C., Emanuel B.S. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Human Mutation 2006, 27:814-821.
40. Vorstman J.A.S., Turetsky B.I., Sijmens-Morcus M.E.J., De Sain M.G., Dorland B., Sprong M., et al. Proline affects brain function in 22q11DS children with the low activity COMT158 allele. Neuropsychopharmacology 2008, 34:739-746.
41. Waldo M.C., Cawthra E., Adler L.E., Dubester S., Staunton M., Nagamoto H., et al. Auditory sensory gating, hippocampal volume, and catecholamine metabolism in schizophrenics and their siblings. Schizophrenia Research 1994, 12:93-106.
42. Willis A., Bender H.U., Steel G., Valle D. PRODH variants and risk for schizophrenia. Amino Acids 2008, 35:673-679.
43. Zarchi O., Attias J., Raveh E., Basel-Vanagaite L., Saporta L., Gothelf D. Acomparative study of hearing loss in two microdeletion syndromes: Velocardiofacial (22q11. 2 deletion) and Williams (7q11. 23 deletion) syndromes. The Journal of Pediatrics 2011, 158:301-306.