Defective oxytocin function: A clue to understanding the cause of autism?

BMC Medicine

Volumn 7, Issue , 2009, Pages

  Gurrieri, Fiorella ^a   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA; OXYTOCIN RECEPTOR; PROTEIN OXTR; UNCLASSIFIED DRUG; OXYTOCIN;

AUTISM; CPG ISLAND; DNA METHYLATION; EPIGENETICS; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENETIC IDENTIFICATION; GENOMICS; HEREDITY; HUMAN; NOTE; PATHOGENESIS; PROMOTER REGION; CHILD; EDITORIAL; FEMALE; GENE EXPRESSION REGULATION; GENETICS; INFANT; MALE; PRESCHOOL CHILD;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INFANT; MALE; OXYTOCIN; RECEPTORS, OXYTOCIN;

EID: 71149121008     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/1741-7015-7-63     Document Type: Note

References (34)

1. Gregory SG, Connelly JJ, Towers A, Johnson J, Biscocho D, Markunas C, Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G, Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA. Genomic and epigenetic evidence for OXTR deficiency in autism. BMC Medicine 2009, 7:62. 10.1186/1741-7015-7-62, 19845972.
2. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev 2008, 9:341-355.
3. Rutter M. Autism research: lessons from the past and prospects for the future. J Autism Develop Disord 2005, 35:241-257.
4. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007, 12:2-22. 10.1038/sj.mp.4001896, 17033636.
5. Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Develop Disord 2003, 33:365-382.
6. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449. 10.1126/science.1138659, 17363630.
7. Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 2008, 455:912-918. 10.1038/nature07457, 2696622, 18923513.
8. Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008, 455:903-911. 10.1038/nature07456, 2673233, 18923512.
9. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009, 459:569-573. 10.1038/nature07953, 19404257.
10. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459:528-533. 10.1038/nature07999, 19404256.
11. Gerber JS, Offit PA. Vaccines and autism: a tale of shifting hypotheses. Clin Infect Dis 2009, 48:456-461. 10.1086/596476, 19128068.
12. Enstrom AM, Water JA, Ashwood P. Autoimmunity in autism. Curr Opin Investig Drugs 2009, 10:463-473.
13. Castellani ML, Conti CM, Kempuraj DJ, Salini V, Vecchiet J, Tete S, Ciampoli C, Conti F, Cerulli G, Caraffa A, Antinolfi P, Galzio R, Shaik Y, Theoharides TC, De Amicis D, Perrella A, Cuccurullo C, Boscolo P, Felaco M, Doyle R, Verrocchio C, Fulcheri M. Autism and immunity: revisited study. Int J Immunopathol Pharmacol 2009, 22:15-19.
14. Blaylock RL. A possible central mechanism in autism spectrum disorders, part 3: the role of excitotoxin food additives and the synergistic effects of other environmental toxins. Altern Therapies Health Med 2009, 15:56-60.
15. Stokstad E. Scientific community. Resignations highlight disagreement on vaccines in autism group. Science 2009, 325:135. 10.1126/science.325_135a, 19589974.
16. Horvath K, Perman JA. Autism and gastrointestinal symptoms. Curr Gastroenterol Rep 2002, 4:251-258. 10.1007/s11894-002-0071-6, 12010627.
17. Baron-Cohen S, Auyeung B, Ashwin E, Knickmeyer R. Fetal testosterone and autistic traits: a response to three fascinating commentaries. Br J Psychol 2009, 100:39-47. 10.1348/000712608X394271, 19141170.
18. Auyeung B, Baron-Cohen S, Ashwin E, Knickmeyer R, Taylor K, Hackett G. Fetal testosterone and autistic traits. Br J Psychol 2009, 100:1-22. 10.1348/000712608X311731, 18547459.
19. Ebstein RP, Israel S, Lerer E, Uzefovsky F, Shalev I, Gritsenko I, Riebold M, Salomon S, Yirmiya N. Arginine vasopressin and oxytocin modulate human social behavior. Ann NY Acad Sci 2009, 1167:87-102. 10.1111/j.1749-6632.2009.04541.x, 19580556.
20. Heinrichs M, Domes G. Neuropeptides and social behaviour: effects of oxytocin and vasopressin in humans. Prog Brain Res 2008, 170:337-350. full_text, 18655894.
21. Israel S, Lerer E, Shalev I, Uzefovsky F, Reibold M, Bachner-Melman R, Granot R, Bornstein G, Knafo A, Yirmiya N, Ebstein RP. Molecular genetic studies of the arginine vasopressin 1a receptor (AVPR1a) and the oxytocin receptor (OXTR) in human behaviour: from autism to altruism with some notes in between. Prog Brain Res 2008, 170:435-449. full_text, 18655900.
22. Domes G, Heinrichs M, Michel A, Berger C, Herpertz SC. Oxytocin improves "mind-reading" in humans. Biol Psychiatry 2007, 61:731-733. 10.1016/j.biopsych.2006.07.015, 17137561.
23. Anderson BM, Schnetz-Boutaud NC, Bartlett J, Wotawa AM, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL. Examination of association of genes in the serotonin system to autism. Neurogenetics 2009, 10:209-216. 10.1007/s10048-009-0171-7, 19184136.
24. Hranilovic D, Bujas-Petkovic Z, Tomicic M, Bordukalo-Niksic T, Blazevic S, Cicin-Sain L. Hyperserotonemia in autism: activity of 5HT-associated platelet proteins. J Neural Transm 2009, 116:493-501. 10.1007/s00702-009-0192-2, 19221690.
25. Schanen NC. Epigenetics of autism spectrum disorders. Hum Mol Genet 2006, 15:R138-150. 10.1093/hmg/ddl213, 16987877.
26. Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A 2008, 146A:2213-2220. 10.1002/ajmg.a.32396, 18698615.
27. Thompson MR, Callaghan PD, Hunt GE, Cornish JL, McGregor IS. A role for oxytocin and 5-HT(1A) receptors in the prosocial effects of 3,4 methylenedioxymethamphetamine ("ecstasy"). Neuroscience 2007, 146:509-514. 10.1016/j.neuroscience.2007.02.032, 17383105.
28. Neumann ID. Brain oxytocin: a key regulator of emotional and social behaviours in both females and males. J Neuroendocrinol 2008, 20:858-865. 10.1111/j.1365-2826.2008.01726.x, 18601710.
29. Takayanagi Y, Yoshida M, Bielsky IF, Ross HE, Kawamata M, Onaka T, Yanagisawa T, Kimura T, Matzuk MM, Young LJ, Nishimori K. Pervasive social deficits, but normal parturition, in oxytocin receptor-deficient mice. Proc Natl Acad Sci USA 2005, 102:16096-16101. 10.1073/pnas.0505312102, 1276060, 16249339.
30. Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE, Sheffield VC. Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry 2004, 9:968-972. 10.1038/sj.mp.4001503, 15098001.
31. Lerer E, Levi S, Salomon S, Darvasi A, Yirmiya N, Ebstein RP. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Mol Psychiatry 2008, 13:980-988. 10.1038/sj.mp.4002087, 17893705.
32. Jacob S, Brune CW, Carter CS, Leventhal BL, Lord C, Cook EH. Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett 2007, 417:6-9. 10.1016/j.neulet.2007.02.001, 2705963, 17383819.
33. Bittel DC, Kibiryeva N, Dasouki M, Knoll JH, Butler MG. A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet A 2006, 140:573-579. 2568077, 16470700.
34. Weaver IC, Cervoni N, Champagne FA, D'Alessio AC, Sharma S, Seckl JR, Dymov S, Szyf M, Meaney MJ. Epigenetic programming by maternal behavior. Nat Neurosci 2004, 7:847-854. 10.1038/nn1276, 15220929.