Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Translational Psychiatry

Volumn 1, Issue , 2011, Pages

  Tarabeux, J ^a,b,c   Kebir, O ^b,c   Gauthier, J ^a   Hamdan, F F ^a   Xiong, L ^a   Piton, A ^a   Spiegelman, D ^a   Henrion, ^a   Millet, B ^b   Fathalli, F ^d   Joober, R ^d   Rapoport, J L ^e   Delisi, L E ^f   Fombonne, E ^g   Mottron, L ^h   Forget Dubois, N ⁱ   Boivin, M ^i,j   Michaud, J L ^a   Drapeau, P ^d   Lafreniere R G ^a   Rouleau, G A ^a,k,l   Krebs, M O ^b,c,m   more..

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER SAINTE ANNE   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e DOUGLAS MENTAL HEALTH UNIVERSITY INSTITUTE   (Canada)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

^h MONTREAL CHILDREN S HOSPITAL   (Canada)

ⁱ Centre d'Excellence en Trouble Envahissants du Developpement de Universite de Montre Al   (Canada)

^j UNIVERSITÉ LAVAL   (Canada)

^k Chaires de recherche du Canada   (Canada)

^l CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^m INSERM   (France)

more..

Author keywords

autism; mutation; NMDA; schizophrenia

Indexed keywords

GRIN1 PROTEIN, HUMAN; N METHYL D ASPARTATE RECEPTOR SUBTYPE 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N-METHYL D-ASPARTATE RECEPTOR SUBTYPE 2A; NERVE PROTEIN;

ALLELE; ARTICLE; AUTISM; CHILD; COHORT ANALYSIS; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; MULTIGENE FAMILY; MUTATION; SCHIZOPHRENIA;

ALLELES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COHORT STUDIES; FEMALE; GENE DELETION; HUMANS; MALE; MULTIGENE FAMILY; MUTATION; NERVE TISSUE PROTEINS; RECEPTORS, N-METHYL-D-ASPARTATE; SCHIZOPHRENIA;

EID: 81555218550     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2011.52     Document Type: Article

References (61)

1. Cull-Candy SG, Leszkiewicz DN. Role of distinct NMDA receptor subtypes at central synapses. Sci STKE 2004; 2004; re16.
2. Krystal JH, Karper LP, Seibyl JP, Freeman GK, Delaney R, Bremner JD et al. Subanesthetic effects of the noncompetitive NMDA antagonist, ketamine, in humans. Psychotomimetic, perceptual, cognitive, and neuroendocrine responses. Arch Gen Psychiatry 1994; 51: 199-214. (Pubitemid 24081509)
3. Krystal JH, Anand A, Moghaddam B. Effects of NMDA receptor antagonists: implications for the pathophysiology of schizophrenia. Arch Gen Psychiatry 2002; 59: 663-664. (Pubitemid 34747249)
4. Amitai N, Markou A. Disruption of performance in the five-choice serial reaction time task induced by administration of N-methyl-D-aspartate receptor antagonists: relevance to cognitive dysfunction in schizophrenia. Biol Psychiatry 2010; 68: 5-16.
5. Vincent A, Bien CG. Anti-NMDA-receptor encephalitis: a cause of psychiatric, seizure, and movement disorders in young adults. Lancet Neurol 2008; 7: 1074-1075.
6. Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng X, Lai M et al. Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 2008; 7: 1091-1098.
7. Dalmau J, Lancaster E, Martinez-Hernandez E, Rosenfeld MR, Balice-Gordon R. Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis. Lancet Neurol 2011; 10: 63-74.
8. Belforte JE, Zsiros V, Sklar ER, Jiang Z, Yu G, Li Y et al. Postnatal NMDA receptor ablation in corticolimbic interneurons confers schizophrenia-like phenotypes. Nat Neurosci 2010; 13: 76-83.
9. Meador-Woodruff JH, Healy DJ. Glutamate receptor expression in schizophrenic brain. Brain Res Brain Res Rev 2000; 31: 288-294. (Pubitemid 30136183)
10. Gao XM, Sakai K, Roberts RC, Conley RR, Dean B, Tamminga CA. Ionotropic glutamate receptors and expression of N-methyl-D-aspartate receptor subunits in subregions of human hippocampus: effects of schizophrenia. Am J Psychiatry 2000; 157: 1141-1149. (Pubitemid 30432497)
11. Ibrahim HM, Hogg Jr AJ, Healy DJ, Haroutunian V, Davis KL, Meador-Woodruff JH. Ionotropic glutamate receptor binding and subunit mRNA expression in thalamic nuclei in schizophrenia. Am J Psychiatry 2000; 157: 1811-1823.
12. Watis L, Chen SH, Chua HC, Chong SA, Sim K. Glutamatergic abnormalities of the thalamus in schizophrenia: a systematic review. J Neural Transm 2008; 115: 493-511.
13. Pilowsky LS, Bressan RA, Stone JM, Erlandsson K, Mulligan RS, Krystal JH et al. First in vivo evidence of an NMDA receptor deficit in medication-free schizophrenic patients. Mol Psychiatry 2006; 11: 118-119. (Pubitemid 43164609)
14. Kim JS, Kornhuber HH, Schmid-Burgk W, Holzmuller B. Low cerebrospinal fluid glutamate in schizophrenic patients and a new hypothesis on schizophrenia. Neurosci Lett 1980; 20: 379-382. (Pubitemid 11160082)
15. Akbarian S, Sucher NJ, Bradley D, Tafazzoli A, Trinh D, Hetrick WP et al. Selective alterations in gene expression for NMDA receptor subunits in prefrontal cortex of schizophrenics. J Neurosci 1996; 16: 19-30. (Pubitemid 26010694)
16. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40: 827-834. (Pubitemid 351913655)
17. Banerjee A, Macdonald ML, Borgmann-Winter KE, Hahn CG. Neuregulin 1-erbB4 pathway in schizophrenia: From genes to an interactome. Brain Res Bull 2010; 83: 132-139.
18. Hahn CG, Wang HY, Cho DS, Talbot K, Gur RE, Berrettini WH et al. Altered neuregulin 1-erbB4 signaling contributes to NMDA receptor hypofunction in schizophrenia. Nat Med 2006; 12: 824-828. (Pubitemid 44050073)
19. Pitcher GM, Kalia LV, Ng D, Goodfellow NM, Yee KT, Lambe EK et al. Schizophrenia susceptibility pathway neuregulin 1-ErbB4 suppresses Src upregulation of NMDA receptors. Nat Med 2011; 17: 470-478.
20. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe'er I et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460: 753-757.
21. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D et al. Common variants conferring risk of schizophrenia. Nature 2009; 460: 744-747.
22. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752.
23. Shatz CJ. MHC class I: an unexpected role in neuronal plasticity. Neuron 2009; 64: 40-45.
24. Fourgeaud L, Davenport CM, Tyler CM, Cheng TT, Spencer MB, Boulanger LM. MHC class I modulates NMDA receptor function and AMPA receptor trafficking. Proc Natl Acad Sci USA 2010; 107: 22278-22283.
25. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010; 42: 1021-1026.
26. Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011; 88: 306-316.
27. Li R, Huang FS, Abbas AK, Wigstrom H. Role of NMDA receptor subtypes in different forms of NMDA-dependent synaptic plasticity. BMC Neurosci 2007; 8: 55.
28. Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS et al. Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry; advance online publication, 1 March 2011 [e-pub ahead of print].
29. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
30. Eadie BD, Cushman J, Kannangara TS, Fanselow MS, Christie BR. NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice. Hippocampus, November 2010.
31. Maliszewska-Cyna E, Bawa D, Eubanks JH. Diminished prevalence but preserved synaptic distribution of N-methyl-D-aspartate receptor subunits in the methyl CpG binding protein 2(MeCP2)-null mouse brain. Neuroscience 2010; 168: 624-632.
32. Rinaldi T, Kulangara K, Antoniello K, Markram H. Elevated NMDA receptor levels and enhanced postsynaptic long-term potentiation induced by prenatal exposure to valproic acid. Proc Natl Acad Sci USA 2007; 104: 13501-13506. (Pubitemid 47293974)
33. Blundell J, Blaiss CA, Etherton MR, Espinosa F, Tabuchi K, Walz C et al. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J Neurosci 2010; 30: 2115-2129.
34. Polleux F, Lauder JM. Toward a developmental neurobiology of autism. Ment Retard Dev Disabil Res Rev 2004; 10: 303-317. (Pubitemid 40209463)
35. Chez MG, Burton Q, Dowling T, Chang M, Khanna P, Kramer C. Memantine as adjunctive therapy in children diagnosed with autistic spectrum disorders: an observation of initial clinical response and maintenance tolerability. J Child Neurol 2007; 22: 574-579. (Pubitemid 46951501)
36. Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T et al. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry 2009; 14: 774-785.
37. Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008; 40: 880-885. (Pubitemid 351913650)
38. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
39. Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009; 66: 947-956.
40. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P et al. A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109-1112.
41. Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 2010; 87: 671-678.
42. Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med 2009; 360: 599-605.
43. Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet 2011; 130: 563-573.
44. Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR et al. Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts. Am J Hum Genet 2010; 87: 316-324.
45. Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M et al. De Novo truncating mutation in kinesin 17 associated with schizophrenia. Biol Psychiatry 2010; 7: 649-656.
46. Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci USA 2010; 107: 7863-7868.
47. Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF et al. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am J Hum Genet 2009; 85: 833-846.
48. Setou M, Nakagawa T, Seog DH, Hirokawa N. Kinesin superfamily motor protein KIF17 and mLin-10 in NMDA receptor-containing vesicle transport. Science 2000; 288: 1796-1802. (Pubitemid 30399012)
49. Rapoport JL, Addington A, Frangou S. The neurodevelopmental model of schizophrenia: what can very early onset cases tell us? Curr Psychiatry Rep 2005; 7: 81-82. (Pubitemid 40796736)
50. Gourion D, Goldberger C, Olie JP, Loo H, Krebs MO. Neurological and morphological anomalies and the genetic liability to schizophrenia: a composite phenotype. Schizophr Res 2004; 67: 23-31. (Pubitemid 38117088)
51. DeLisi LE, Shaw SH, Crow TJ, Shields G, Smith AB, Larach VW et al. A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am J Psychiatry 2002; 159: 803-812. (Pubitemid 34465055)
52. Joober R, Rouleau GA, Lal S, Dixon M, O'Driscoll G, Palmour R et al. Neuropsychological impairments in neuroleptic-responder vs-nonresponder schizophrenic patients and healthy volunteers. Schizophr Res 2002; 53: 229-238. (Pubitemid 34008587)
53. Fathalli F, Rouleau GA, Xiong L, Tabbane K, Benkelfat C, Deguzman R et al. No association between the DRD3 Ser9Gly polymorphism and schizophrenia. Schizophr Res 2008; 98: 98-104. (Pubitemid 350235883)
54. Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet 2008; 17: 3965-3974. (Pubitemid 352762857)
55. Lemelin JP, Boivin M, Forget-Dubois N, Dionne G, Seguin JR, Brendgen M et al. The genetic-environmental etiology of cognitive school readiness and later academic achievement in early childhood. Child Dev 2007; 78: 1855-1869.
56. Niemann S, Landers JE, Churchill MJ, Hosler B, Sapp P, Speed WC et al. Motoneuronspecific NR3B gene: no association with ALS and evidence for a common null allele. Neurology 2008; 70: 666-676.
57. Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics 2000; 156: 297-304.
58. Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci USA 2010; 107: 961-968.
59. Williams NM, Bowen T, Spurlock G, Norton N, Williams HJ, Hoogendoorn B et al. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Mol Psychiatry 2002; 7: 508-514. (Pubitemid 34712903)
60. Niemann S, Kanki H, Fukui Y, Takao K, Fukaya M, Hynynen MN et al. Genetic ablation of NMDA receptor subunit NR3B in mouse reveals motoneuronal and nonmotoneuronal phenotypes. Eur J Neurosci 2007; 26: 1407-1420. (Pubitemid 47416523)
61. Das S, Sasaki YF, Rothe T, Premkumar LS, Takasu M, Crandall JE et al. Increased NMDA current and spine density in mice lacking the NMDA receptor subunit NR3A. Nature 1998; 393: 377-381. (Pubitemid 28269712)