2012, Number 2
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Revista del Hospital Psiquiátrico de La Habana 2012; 9 (2)
Chromosomal Aberrations and Schizophrenia
Morales RE
Language: Spanish
References: 77
Page:
PDF size: 227.76 Kb.
ABSTRACT
Schizophrenia is a mental disorder affecting world population, with a prevalence of 1 % and inheritability to 80 %. Studies of genetic linkage, genomic convergence, and of chromosome association and aberrations, have contributed to susceptibility gene identification and to establish molecular markers associated to schizophrenia. With this review, knowledge about the antecedents has possibly been extended to the valid classification, epidemiology and diagnosis of the disease, and to emphasize in chromosomal aberrations reported in patients with schizophrenia as a part of the genetic factors found in this pathology. Several published and archived articles in scientific databases were consulted, thus enabling us to obtain a close approach to the estimation of the frequency of these findings, and allowing to continue evaluating the possible association of Schizophrenia with chromosome aberrations.
REFERENCES
Rathus, Spencer; Jeffrey Nevid. Abnormal Psychology.1991:228. ISBN 0130052167.
Evans K, McGrath J, Milns R. Searching for schizophrenia in ancient Greek and Roman literature: A systematic review. Acta Psychiatrica Scandanavica. 2003; 107(5): 323-330.
Heinrichs RW. Historical origins of schizophrenia: two early madmen and their illness. J Hist Behav Sci. 2003; 39(4): 63-70.
Okasha, A, Okasha, T. Notes on mental disorders in Pharaonic Egypt History of Psychiatry. 2000; 11: 413-424.
Kraepelin E. Text book of psychiatry (7th ed) (trans. A.R. Diefendorf). London: Macmillan. 1999
Hansen RA, Atchison B. Conditions in occupational therapy: effect on occupational performance. Hagerstown, MD: Lippincott Williams & Wilkins.2000. ISBN 0-683-30417-8.
Bleuler, E. Demencia precoz. El grupo de las esquizofrenias. Ed. Hormé. Buenos Aires. 1960 (ed. original 1908).
Berrios, G E & Porter, R S. A history of clinical psychiatry: the origin and history of psychiatric disorders. London: Athlone Press.1995. ISBN 0-485-24211-7.
Allen GE. The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today. Genetica. 1997; 99(2-3):77-88.
Bentall RP, Read JE, Mosher LR. Models of Madness: Psychological, Social and Biological Approaches to Schizophrenia. Philadelphia: Brunner-Routledge. 2004. ISBN 1-58391-906-6.
Brian Kirkpatrick a Medical College of Georgia, Augusta, Georgia, Estados Unidos, Rev Psiquiatr Salud Ment.2009; 02(03) :105-7
Kumra S; Shaw M, Merka P, Nakayama E, Augustin R.Childhood-onset schizophrenia: research update. Canadian Journal of Psychiatry. 2001; 46(10): 923–30.
Sim K, Chua TH, Chan YH, Mahendran R, Chong SA. Psychiatric comorbidity in first episode schizophrenia: a 2 year, longitudinal outcome study. Journal of Psychiatric Research.2006; 40(7): 63-68.
Brown S, Barraclough B, Inskip H Causes of the excess mortality of schizophrenia. British Journal of Psychiatry. 2000; 177: 7-127.
Jablensky A, Sartorius N, Ernberg G, Anker M, Korten A, Cooper JE, Day R, Bertelsen A. Schizophrenia: manifestations, incidence and course in different cultures. A World Health Organization ten-country study. Psychological Medicine Monograph Supplement. 1992; 20:1-97.
Kirkbride JB, Fearon P, Morgan C, Dazzan P, Morgan K, Murray RM, Jones PB. Neighbourhood variation in the incidence of psychotic disorders in Southeast London. Social Psychiatry and Psychiatric Epidemiology. 2007; 42(6):45-59.
Kumra S, Shaw M, Merka P, Nakayama E, Augustin. Childhood-onset schizophrenia: research update. Canadian Journal of Psychiatry. 2001; 46(10): 30-63.
Hassett A, Ames D, Chiu E. Psychosis in the Elderly. London: Taylor and Francis.2005. ISBN 18418439446
Van Os J. Does the urban environment cause psychosis? British Journal of Psychiatry. 2004; 184(4): 287–288.
Harrison PJ, Owen MJ. Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet. 2003; 361(9355):9-47.
Owen MJ, Craddock N, O’Donovan MC. Schizophrenia: genes at last? Trends in Genetics.2005; 21(9): 25-125.
Lewis R. Should cognitive deficit be a diagnostic criterion for schizophrenia? Journal of Psychiatry and Neuroscience. 2004; 29(2):103-113.
Brune M, Abdel-Hamid M, Lehmkamper C. Mental state attribution, neurocognitive functioning, and psychopathology: Schizophrenia Research. 2007; 92(1): 9-151.
O'Donovan MC, Williams NM, Owen MJ. Recent advances in the genetics of schizophrenia. Human Molecular Genetics.2003; 12 (2):33-115.
Cardno AG, Marshall J, Coid B, MacDonald A, Ribchester T, Davies N, et al. Heritability estimates for psychotic disorders. Arch Gen Psychiatry. 1999; 56:162-168.
Brown S, Barraclough B, Inskip H. Causes of the excess mortality of schizophrenia. British Journal of Psychiatry. 2000; 177:7-59.
Owen MJ; Craddock N, O'Donovan MC.Schizophrenia: genes at last? Trends in Genetics.2005; 21(9): 518–25.
A framework for interpreting genome-wide association studies of psychiatric disorders. Mol. Psychiatry.2009; 14(1):7-10.
Craddock N, O’Donovan MC, Owen MJ. The genetics of schizophrenia and bipolar disorder: dissecting psychosis. J Med Genet. 2005 Mar; 42(3): 204-193.
Detera-Wadleigh SD, McMahon FJ. Biol Psychiatry. 2006; 60(2):14-106.
Abou Jamra R, Schmael C, Cichon S, Rietschel M, Schumacher J, Nothen MM. The G72/G30 gene locus in psychiatric disorders: a challenge to diagnostic boundaries? Schizophr Bull. 2006; 32(4):599-608.
Craddock N, O'Donovan MC, Owen MJ. Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophrenia Bulletin.2006; 32(1):9-16.
Owen, M.J, O’Donovan, M, Gotesman, I. Psychiatric Genetics and Genomics.Oxford: Oxford University Press.2003: 246-267.
Prasad S, Semwal P, Deshpande S, Bhatia T, Nimgaonkar VL, Thelma BK. Molecular genetics of schizophrenia: past, present and future. Journal of Bioscience.2002; 2(1): 32-52
Risch N. Linkage strategies for genetically complex traits. I Multilocus models. American Journal of Human Genetics.1999; 46:8-222.
Schwab SG, Knapp M, Mondabon S, Hallmayer J, Borrman-Hassenbach M, Albus M, Lerer B 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. American Journal of Human Genetics.2003; 72:90-185.
Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV et al. Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. American Journal of Human Genetics.2003; 71(2):48-337.
Van Den Bogaert A, Schumacher J, et al. The DTNBP1 (Dysbindin) Gene Contributes to Schizophrenia, Depending on Family History of the Disease. American Jorunal of Human Genetics.2003; 73 (6):43-148.
Collier D.A, Li T. The genetics of schizophrenia: glutamate not dopamine? European Journal of Pharmacology.2003; 480:177-184.
Stefansson H, Sarginson J, Kong A, Yates P, Steinthorsdottir V, Gudfinnsson E et al. Associationof neuregulin 1 with schizophrenia confirmed in a Scottish population. American Journal of Human Genetics.2008; 72: 7-82.
Chumakov I, Blumenfeld M, Guerassimenko O, et al. Genetic and physiological data implicating the new human gene G72 and the gene for Damino acid osidase in schizophrenia. Proc Natl Acad Sci U S A.2009; 99:80-100.
Gottesman I, Gould T.D. The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions. American Journal of Psychiatry.2003; 160: 636-645.
Forero Castro R et al. Anormalidades Cromosómicas y esquizofrenia. Rev. Colomb Psiquiat.2009; 38(3).
Shaw SH, Kelly M, Smith AB, Shields G, Hopkins PJ, Loftus J, et al. A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet. 2005; 81(5): 76-364.
Hovatta I, Varilo T, Suvisaari J, Terwilliger JD, Ollikainen V, Arajärvi R, et al. A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet.2003; 65(4):24-114.
Ekelund J, Lichtermann D, Hovatta I,Ellonen P, Suvisaari J, Terwilliger JD, et al. Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet. 2000; 9(7):49-57.
Gordon CT, Krasnewich D, White B,Lenane M, Rapoport JL. Brief report: translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia. J Autism Dev Disord.2004; 24(4): 37-45.
Glass IA, Stormer P, Oei PT, Hacking E, Cotter PD. Trisomy 2q11 .2-q21.1 resulting from an unbalanced insertion in two generations. J Med Genet. 2000; 35(4):19-22.
Palmour RM, Miller S, Fielding A, Vekemans M, Ervin FR. A contribution to the differential diagnosis of the “Group of Schizophrenias”: Structural abnormality of chromosome 4. J Psychiatry Neurosci. 1999; 19(4):7-17.
Bassett AS, McGillivray BC, Jones BD, Pantzar JT. Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet. 2003; 1(8589):799-801.
Holland T, Gosden C. A balanced chromosomal translocation partially cosegregating with psychotic illness in a family. Psychiatry Res. 2004; 32(1).
Baysal BE, Potkin SG, Farr JE, Higgins MJ, Korcz J, Gollin SM, et al. Bipolar affective disorder partially cosegregates with a balanced t(9;11 )(p24;q23.1) chromosomal translocation in a small pedigree. Am J Med Genet. 1998; 81(1):81-91.
Caluseriu O, Mirza G, Ragoussis J, Chow EWC, MacCrimmon D, Bassett AS. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006; 140(11):12-13.
Bogani D, Willoughby C, Davies J, Kaur K, Mirza G, Paudyao A, et al. Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci USA.2005; 102(35):24-82.
Faraone SV, Matise T, Svrakic D,Pepple J, Malaspina D, Suarez B, et al. Genome scan of European–American schizophrenia pedigrees: results of the NIMH Genetics Initiative and Millennium Consortium. Am J Med Genet.2000; 81(4):5-15.
Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1999; 42(1):141.
Kunugi H, Lee KB, Nanko S. Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the X chromosome aneuploidies and pericentric inversion of chromosome 9. Schizophr Res. 1999; 40(1): 7-43.
Liu Y-C, Lee M-L, Chen C-P, Lee C-C,Lin S-J, Chao M-C, et al. Inversion and enlargement of the heterochromatin region of chromosome no. 9 among Taiwanese. Tzu Chin Med J.2000; 9(3):67-159.
Serra A, Brahe C, Millington-Ward A,Neri G, Tedeschi B, Tassane F, et al. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of ndisjunction. Am J Med Genet.2002; 7:8-162.
Yamada K. Population studies of Inv(9) chromosomes in 4,300 Japanese: incidence, sex difference and clinical significance. Jpn J Hum Genet.1999; 37(4):293-301.
Ko TM, Hsieh FJ, Chang LS, Pan MF,Lee TY. Pericentric inversions of chromosome 9 in Taiwanese fetuses. J Formos Med Assoc. 1992; 91(4):44-102.
Klar AJ. The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders. Genetics. 2002; 160(4):7-45.
Bassett AS, Chow EW, Weksberg R. Chromosomal abnormalities and schizophrenia. Am J Med Genet. 2000; 97(1):47-57.
Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, et al. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet. 2000; 9(9):23-59.
Evans KL, Muir WJ, Blackwood DH, Porteous DJ. Nuts and bolts of psychiatric genetics: building on the Human Genome Project. Trends Genet.2001; 17(1): 35-40.
Blackwood DH, Fordyce A, Walker MT, St.Clair DM, Porteous DJ, Muir WJ. Schizophrenia and affective disorderscosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet. 2001; 69(2):33-428.
Millar JK, Christie S, Porteous DJ. Yeast two-hybrid screens implícate DISC1 in brain development and function.Biochem Biophys Res Commun. 2003; 31(4):25-109.
MacIntyre DJ, Blackwood DH, Porteous DJ, Pickard BS, Muir WJ. Chromosomal abnormalities and mental illness. Mol Psychiatry. 2003; 8(3):75-87.
McGuffin, P., Tandon, K., Corsico, A. Linkage and association studies of schizophrenia. Current Psychiatry Report.2003; 51(2):121-127.
Toyota T, Shimizu H, Yamada K, Yoshitsugu K, Meerabux J, Hattori E, et al. Karyotype analysis of 161 unrelated schizophrenics: no increased rates of X chromosome mosaicism or inv(9), using ethnically matched and agestratified controls. Schizophr Res.2005; 52(3):9-171.
Mors O, Ewald H, Blackwood D, Muir W. Cytogenetic abnormalities on chromosome 18 associated with bipolar affective disorder or schizophrenia. Br J Psychiatry. 2007; 170: 80-278
.Smith AB, Peterson P, Wieland J, Moriarty T, DeLisi LE. Chromosome 18 translocation (18;21) (p11 .1;p11 .1) asociated with psychosis in one family. Am J Med Genet. 2006; 67(6):3-56.
Demirhan O, Tastemir D. Chromosome aberrations in schizophrenia population. Schizophr Res. 2003; 65(1):7-1.
Bassett AS, Chow WC. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 2003; 46(1):88-91.
Iourov IY, Vorsanova SG, Yurov YB. Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. Int Rev Cytol. 2006; 249: 91-143.
Woodhouse WJ, Holland AJ, McLean G, Reveley AM. The association between triple X and psychosis. Br J Psychiatry. 2002; 160:7-53.
Yurov YB, Iourov IY, Vorsanova SG, Demidova IA, Kravetz VS, Beresheva AK, et al. The Schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res. 2008; 98(1-3):39-47.