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Órgano Oficial del Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz

2004, Number 6

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Salud Mental 2004; 27 (6)

Genetic mapping studies of schizophrenia and bipolar disorder

Alarcón RD

Language: English
References: 60
Page: 1-7
PDF size: 44.46 Kb.


Text Extraction

During the last two decades, the search to define medical illnesses by virtue of variations (or mutations) at the level of DNA has ushered in a revolution in our understanding of the origins of many diseases. Although somewhat lagging behind other fields of medicine with regard to actual discoveries of disease genes, psychiatric researchers are now very actively engaged in applying the study of genes and molecular biology to disorders such as schizophrenia, bipolar disorder, and other mental illnesses. Coming roughly 100 years after Emil Kraepelin first defined the major psychotic disorders as “dementia praecox” (currently defined as schizophrenia) and “manic depression” (currently termed bipolar disorder), we are now beginning to see both the utility of these century old diagnostic terms (they have helped us to begin to define gene locations for these discrete illnesses) as well as their limitations. In this paper, we will review the current state of genetic research on schizophrenia and bipolar disorder, with a special emphasis on work that has been done or is currently underway to define predisposition genes for mental illness within the Latin American population.


REFERENCES

  1. BERGER GE, WOOD S, McGORRY PD: Incipient neurovulnerability and neuroprotection in early psychosis. Psychopharmacol Bull, 37:79-101, 2003.

  2. BERRETTINI W: Bipolar disorder and schizophrenia: convergent molecular data. Neuromolecular Med, 5:109-17, 2004.

  3. BROWN AS, SUSSER ES: In utero infection and adult schizophrenia. Ment Retard Dev Disabil Res Rev, 8:51-7, 2002.

  4. CHEN YS, AKULA N, DETERA-WADLEIGH SD, SCHULZE TG, THOMAS J, POTASH JB et al.: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33. Mol Psychiatry, 9:87-92; image 5, 2004.

  5. CHUMAKOV I, BLUMENFELD M, GUERASSIMENKO O, CAVAREC L, PALICIO M, ABDERRAHIM H, BOUGUELERET L et al.: Genetic and physiological data implicating the new human gene G72 and the gene for Damino acid oxidase in schizophrenia. Proc Natl Acad Sci USA, 99:13675-80, 2002.

  6. DARWIN C: The Expression of the Emotions in Man and Animals. John Murray, England, 1972.

  7. DeLISI LE, MESEN A, RODRIGUEZ C, BERTHEAU A, LAPRADE B, LLACH M et al.: Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. Am J Med Genet, 114:497-508, 2002.

  8. DETERA-WADLEIGH SD, GOLDIN LR, SHERRINGTON R, ENCIO I, DE MIGUEL C et al.: Exclusion of linkage to 5q11-13 in families with schizophrenia and other psychiatric disorders. Nature, 340:391-3,1989.

  9. DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS: American Psychiatric Association, Washington DC, 1994.ANGST J: Historical aspects of the dichotomy between manic-depressive disorders and schizophrenia. Schizophr Res , 57:5-13, 2002.

  10. EGELAND JA, GERHARD DS, PAULS DL, SUSSEX JN, KIDD KK et al.: Bipolar affective disorders linked to DNA markers on chromosome 11. Nature, 325:783-7, 1987.

  11. ENDICOTT J: Good diagnoses require good diagnosticians: collecting and integrating the data. Am J Med Genet, 105:48- 9, 2001.

  12. ESCAMILLA M, FREIMER N, REUS V: The genetics of bipolar disorder and schizophrenia. In: The Molecular and Genetic Basis of Neurological Disease. Butterworth-Heinemann, Boston, 1997.

  13. ESCAMILLA M, ONTIVEROS A, NICOLINI H, RAVENTOS H, MENDOZA R, DELGADO A et al.: Clinical characteristics of subjects from a multi-site genetics study of schizophrenia (sc) in Latin American families. Am J Med Genet, 114:846-847, 2002.

  14. ESCAMILLA M, RAVENTOS H, ALMASY L, MONTERO P, BALDERAS T, RODRIGUEZ S, LEVINSON DF: Linkage Disequilibrium Analysis of Schizophrenia and Schizoaffective Disorder in the Costa Rican Population: Preliminary Findings on Chromosome 13. Am J Med Genet, 105:599, 2001a.

  15. ESCAMILLA MA: Diagnosis and treatment of mood disorders that co-occur with schizophrenia. Psychiatr Serv, 52:911-9, 2001a.

  16. ESCAMILLA MA: Population isolates: their special value for locating genes for bipolar disorder. Bipolar Disord, 3:299- 317, 2001b.

  17. ESCAMILLA MA, MCINNES LA, SERVICE SK, SPESNY M, REUS VI et al.: Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18. Am J Med Genet, 105:207-13, 2001b.

  18. ESCAMILLA MA, McINNES LA, SPESNY M, REUS VI, SERVICE SK et al.: Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. American J Human Genetics, 64:1670-8, 1999.

  19. FEIGHNER JP, ROBINS E, GUZE SB, WOODRUFF RA, JR., WINOKUR G et al.: Diagnostic criteria for use in psychiatric research. Arch Gen Psychiatry, 26:57-63, 1972.

  20. GARNER C, MCINNES LA, SERVICE SK, SPESNY M, FOURNIER E et al.: Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov chain Monte Carlo method. Am J Hum Genet 68:1061-4, 2001.

  21. GUSELLA JF, WEXLER NS, CONNEALLY PM, NAYLOR SL, ANDERSON MA et al.: A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306:234-8, 1983.

  22. HATTORI E, LIU C, BADNER JA, BONNER TI, CHRISTIAN SL et al.: Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet, 72:1131-40, 2003.

  23. HOWES OD, MCDONALD C, CANNON M, ARSENEAULT L, BOYDELL J, MURRAY RM Pathways to schizophrenia: the impact of environmental factors. Int J Neuropsychopharmacol, (7 Suppl), 1:S7-S13, 2004.

  24. JARSKOG LF, SELINGER ES, LIEBERMAN JA, GILMORE JH: Apoptotic proteins in the temporal cortex in schizophrenia: high Bax/Bcl-2 ratio without caspase-3 activation. Am J Psychiatry, 161:109-15, 2004.

  25. KELSOE JR, GINNS EI, EGELAND JA, GERHARD DS, GOLDSTEIN AM et al.: Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature, 342:238-43, 1989.

  26. KELSOE JR, SPENCE MA, LOETSCHER E, FOGUET M, SADOVNICK AD et al.: A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA, 98:585-90, 2001.

  27. KOPONEN H, RANTAKALLIO P, VEIJOLA J, JONES P, JOKELAINEN J, ISOHANNI M: Childhood central nervous system infections and risk for schizophrenia. Eur Arch Psychiatry Clin Neurosci 254:9-13, 2004.

  28. MATHEWS CA, REUS VI: Genetic linkage in bipolar disorder. CNS Spectr, 8:891-904, 2003.

  29. MATHEWS CA, REUS VI, BEJARANO J, ESCAMILLA MA, FOURNIER E et al.: Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations. Psychiatr Genet, 14:13-23, 2004.

  30. McDONALD C, GRECH A, TOULOPOULOU T, SCHULZE K, CHAPPLE B et al.: Brain volumes in familial and non-familial schizophrenic probands and their unaffected relatives. Am J Med Genet, 114:616-25, 2002.

  31. McGLASHAN TH, HOFFMAN RE: Schizophrenia as a disorder of developmentally reduced synaptic connectivity. Arch Gen Psychiatry, 57:637-48, 2000.

  32. McINNES LA, ESCAMILLA MA, SERVICE SK, REUS VI, LEON P et al.:. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proceedings of the National Academy of Sciences of the United States of America,. 93:13060-5, 1996.

  33. McKUSICK VA: Medalian inheritance in man. In: A Catalog of Human Genes and Genetic Disorders. John Hopkins University Press, Baltimore, 1998.

  34. MILLER P, LAWRIE SM, HODGES A, CLAFFERTY R, COSWAY R, JOHNSTONE EC: Genetic liability, illicit drug use, life stress and psychotic symptoms: preliminary findings from the Edinburgh study of people at high risk for schizophrenia. Soc Psychiatry Psychiatr Epidemiol, 36:338-42, 2001.

  35. MOLDIN SO: NIMH Human Genetics Initiative: 2003 update. Am J Psychiatry, 160:621-2, 2003.

  36. NICOLINI H, CRUZ C, CAMARENA B, OROZCO B, KENNEDY JL et al.: DRD2, DRD3 and 5HT2A receptor genes polymorphisms in obsessive-compulsive disorder. Mol Psychiatry, 1:461-5, 1996.

  37. NURNBERGER JI Jr, BLEHAR MC, KAUFMANN CA, YORK-COOLER C, SIMPSON SG et al.: Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry, 51:849-59, 1994.

  38. NURNBERGER JI Jr., FOROUD T: Genetics of bipolar affective disorder. Curr Psychiatry Rep, 2:147-57, 2000.

  39. O’DONOVAN MC, WILLIAMS NM, OWEN MJ: Recent advances in the genetics of schizophrenia. Hum Mol Genet, 12 Spec No 2:R125-33, 2003.

  40. OPHOFF RA, ESCAMILLA MA, SERVICE SK, SPESNY M, MESHI DB, POON W et al.: Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. Am J Hum Genet, 71:565-74, 2002.

  41. OSPINA-DUQUE J, DUQUE C, CARVAJAL-CARMONA L, ORTIZ-BARRIENTOS D, SOTO I, PINEDA N, CUARTAS M et al.: An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia. Neurosci Lett, 292:199-202, 2000.

  42. PRABAKARAN S, SWATTON JE, RYAN MM, HUFFAKER SJ, HUANG JJ et al.: Mitochondrial dysfunction in Schizophrenia: evidence for compromised brain metabolism and oxidative stress. Mol Psychiatry, 2004.

  43. RAO AV, BALACHANDRAN B: Role of oxidative stress and antioxidants in neurodegenerative diseases. Nutr Neurosci, 5:291-309, 2002.

  44. READ J, ROSS CA: Psychological trauma and psychosis: another reason why people diagnosed schizophrenic must be offered psychological therapies. J Am Acad Psychoanal Dyn Psychiatry, 31:247-68, 2003.

  45. SCHULZE K, MCDONALD C, FRANGOU S, SHAM P, GRECH A et al.: Hippocampal volume in familial and nonfamilial schizophrenic probands and their unaffected relatives. Biol Psychiatry, 53:562-70, 2003.

  46. SCHWAB SG, KNAPP M, MONDABON S, HALLMAYER J, BORRMANN-HASSENBACH M et al.: Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. Am J Hum Genet, 72:185-90, 2003.

  47. SHERRINGTON R, BRYNJOLFSSON J, PETURSSON H, POTTER M, DUDLESTON K et al.: Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature, 336:164-7, 1988.

  48. SHIFMAN S, BRONSTEIN M, STERNFELD M, PISANTE-SHALOM A, LEV-LEHMAN E et al.: A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet, 71:1296-302, 2002.

  49. SHINK E, MORISSETTE J, VILLENEUVE A, BORDELEAU L, ROCHETTE D et al.: Support for the presence of bipolar disorder susceptibility loci on chromosome 5: heterogeneity in a homogeneous population in Quebec. Prog Neuropsychopharmacol Biol Psychiatry, 26:1273-7, 2002.

  50. SOLLUWAY F: Freud, Biologist of the Mind. Harvard University Press, Cambridge, 1992.

  51. STEFANSSON H, SARGINSON J, KONG A, YATES P, STEINTHORSDOTTIR V et al.: Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet, 72:83-7, 2003.

  52. STEFANSSON H, SIGURDSSON E, STEINTHORSDOTTIR V, BJORNSDOTTIR S, SIGMUNDSSON T et al.: Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet, 71:877-92, 2002.

  53. STEVENS A: The Two Million Year Old Self. Texas A&M University Press, College Station, Texas, 1997.

  54. STEVENS A: Archetype Revisited: An Updated Natural History of the Self. Inner City Books, Toronto, 2003.

  55. STRAUB RE, JIANG Y, MACLEAN CJ, MA Y, WEBB BT et al.: Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet, 71:337-48, 2002.

  56. TSUANG M, FARAONE S: The Genetics of Mood Disorders. Vol ix. Johns Hopkins Press, Baltimore, 1990.

  57. VERDOUX H, SUTTER AL: Perinatal risk factors for schizophrenia: diagnostic specificity and relationships with maternal psychopathology. Am J Med Genet, 114:898-905, 2002.

  58. WEINBERGER DR: Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry, 44:660-9, 1987.

  59. WOLF SS, HYDE TM, WEINBERGER DR: Neurobiology of schizophrenia. Curr Opin Neurol Neurosurg, 6:86-92, 1993.

  60. YATHAM LN: Acute and maintenance treatment of bipolar mania: the role of atypical antipsychotics. Bipolar Disord, (5 Suppl) 2:7-19, 2003.




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