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Genes envolvidos na determinaĆ§Ć£o da esquizofrenia
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Abstract(s)
A esquizofrenia, face Ć sua complexidade, Ć© vista como uma perturbaĆ§Ć£o intrigante (Kay, 1991) sendo descrita como uma doenƧa āheterogĆ©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.
Due 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.
Due 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.
Description
Projeto 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 FarmacĆŖuticas
Keywords
Esquizofrenia Fatores genĆ©ticos Fatores nĆ£o-genĆ©ticos HeranƧa multifatorial GenĆ©tica molecular GĆ©meos AdoĆ§Ć£o Schizophrenia Genetic factors Non-genetic factors Multifactorial inheritance Molecular genetics Twins Adoption