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Genes envolvidos na determinaĆ§Ć£o da esquizofrenia

2015Master thesis Open access
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dc.contributor.advisorCardoso, InĆŖs Lopes
dc.contributor.authorSilva, Juliana CecĆ­lia Freitas
dc.date.accessioned2016-03-14T11:58:27Z
dc.date.available2016-03-14T11:58:27Z
dc.date.issued2015
dc.descriptionProjeto de PĆ³s-GraduaĆ§Ć£o/DissertaĆ§Ć£o apresentado Ć  Universidade Fernando Pessoa como parte dos requisitos para obtenĆ§Ć£o do grau de Mestre em CiĆŖncias FarmacĆŖuticaspt_PT
dc.description.abstractA esquizofrenia, face Ć  sua complexidade, Ć© vista como uma perturbaĆ§Ć£o intrigante (Kay, 1991) sendo descrita como uma doenƧa ā€œheterogĆ©nea e multifatorialā€, isto Ć© pode estar associada a diversos fatores (Matos et al., 2003). Esta perturbaĆ§Ć£o neuropsiquiĆ”trica Ć© caracterizada pela presenƧa de um comportamento psicĆ³tico, de pensamento irrealista e desorganizado, alĆ©m de uma marcada disfunĆ§Ć£o social. Os relacionamentos interpessoais estĆ£o comprometidos e alterados e a autoestima diminuĆ­da. A maioria dos indivĆ­duos com esquizofrenia nĆ£o chega a casar e uma grande percentagem mantĆ©m contatos sociais limitados (Matos et al., 2003). A esquizofrenia manifesta-se comummente na adolescĆŖncia ou no inĆ­cio da idade adulta (Kaplan e Sadock, 1999). Quando a manifestaĆ§Ć£o Ć© precoce, as caracterĆ­sticas clĆ­nicas sĆ£o, em regra, menos graves do que as observadas quando esta ocorre na fase adulta. As manifestaƧƵes clĆ­nicas apresentadas em crianƧas com esquizofrenia incluem alucinaƧƵes visuais e nos casos de manifestaĆ§Ć£o tardia da doenƧa (por exemplo, apĆ³s os 45 anos) a sintomatologia clĆ­nica apresenta delĆ­rios e alucinaƧƵes paranoides. Nos casos com idade de inĆ­cio mais avanƧada (acima dos 60 anos), o paciente apresenta diminuiĆ§Ć£o das capacidades sensoriais, tais como perda auditiva. A esquizofrenia afeta cerca de 1% da populaĆ§Ć£o mundial (Kasai et al., 2002) apresentando um elevado impacto a nĆ­vel familiar (Johnson, 1990) e enormes gastos em saĆŗde pĆŗblica (Uhl e Grow, 2004). A influĆŖncia genĆ©tica nesta patologia estĆ” bem caracterizada, no entanto, a natureza exata do modo de transmissĆ£o ainda nĆ£o Ć© clara (Chowdari e Nimgaonkar, 1999; Woolf, 1997; Maier e Schwab, 1998; Portin e Alanen, 1997; Schulz e Andreasen, 1999). Os dados disponĆ­veis sĆ£o compatĆ­veis com a hipĆ³tese de que, na maioria dos casos, a componente genĆ©tica consiste de mĆŗltiplos genes agindo de forma aditiva, sendo que o genĆ³tipo predisponente Ć  esquizofrenia sĆ³ se manifesta quando o nĆŗmero de genes e de fatores nĆ£o-genĆ©ticos presentes for maior do que um determinado nĆŗmero limiar.pt_PT
dc.description.abstractDue to its complexity, schizophrenia is seen as an intriguing disorder (Kay 1991) being described as a "heterogeneous and multifactorial" disorder, i.e. it can be associated with several factors (Matos et al., 2003). This neuropsychiatric disorder is characterized by the presence of a psychotic behavior, unrealistic and disorganized thinking, and a marked social dysfunction. Patients show altered and compromised interpersonal relationships and diminished self-esteem. Most individuals with schizophrenia do not get married and a large percentage keeps limited social contacts (Matos et al., 2003). Symptoms of schizophrenia usually appear during adolescence or early adulthood (Kaplan and Sadock, 1999). In early manifestations, clinical features are usually less severe than those seen when this occurs in adulthood. Clinical symptoms in children with schizophrenia include visual hallucinations and in cases of late-onset disease (eg, after 45 years) the clinical symptomatology includes paranoid delusions and hallucinations. In cases with more advanced age onset (over 60 years), patients have decreased sensorial abilities, such as hearing loss. Schizophrenia affects around 1% of world population (Kasai et al., 2002) presenting a high impact at family level (Johnson, 1990) and huge expenditure on public health (Uhl and Grow, 2004). The genetic influence in this pathology is well characterized, however, the exact nature of the type of transmission is not yet clear (Chowdari and Nimgaonkar, 1999; Woolf, 1997; Schwab and Maier, 1998; Portin and Alanen, 1997; Schulz and Andreasen, 1999). Available data are consistent with the hypothesis that, in most cases, the genetic component consists of multiple genes acting additively, being the genotype expressed only when the number of genes and non-genetic factors present is above a threshold number.pt_PT
dc.identifier.tid201618559pt_PT
dc.identifier.urihttp://hdl.handle.net/10284/5244
dc.language.isoporpt_PT
dc.publisher[s.n.]pt_PT
dc.subjectEsquizofreniapt_PT
dc.subjectFatores genƩticospt_PT
dc.subjectFatores nĆ£o-genĆ©ticospt_PT
dc.subjectHeranƧa multifatorialpt_PT
dc.subjectGenƩtica molecularpt_PT
dc.subjectGĆ©meospt_PT
dc.subjectAdoĆ§Ć£opt_PT
dc.subjectSchizophreniapt_PT
dc.subjectGenetic factorspt_PT
dc.subjectNon-genetic factorspt_PT
dc.subjectMultifactorial inheritancept_PT
dc.subjectMolecular geneticspt_PT
dc.subjectTwinspt_PT
dc.subjectAdoptionpt_PT
dc.titleGenes envolvidos na determinaĆ§Ć£o da esquizofreniapt_PT
dc.typemaster thesis
dspace.entity.typePublication
rcaap.rightsopenAccesspt_PT
rcaap.typemasterThesispt_PT

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