Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes. / Schizophrenia; deletion syndrome; genes

AUTOR(ES)

Vanessa Kiyomi Arashiro Ota

FONTE

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia

DATA DE PUBLICAÇÃO

22/02/2011

RESUMO

Background: Schizophrenia is a severe, persistent, debilitating and poorly understood psychiatric disorder. It is a complex disease with heterogeneous fenotype. Among the genetic factors that might have a role in schizophrenia, it is included 22q11.2 deletion. Objectives: We aimed to investigate chromosomal abnormalities, UFD1L and ZDHHC8 polymorphisms, TBX1 mutations and copy number variations in schizophrenia and 22q11.2 deletion syndrome and associate them with clinical genetics, psychiatric, neuropsychological and neuroimaging data. Methodology: A total of 200 schizophrenia patients, 200 healthy controls and 10 patients who have the 22q11.2 syndrome phenotype but no detectable deletion were selected. Schizophrenia patients were investigated through classical karyotyping by G-banding and Multiplex Ligationdependent probe amplification. UFD1L rs5992403 and ZDHHC8 rs175174 polymorphisms were genotyped in schizophrenia patients and healthy controls by Real Time PCR using TaqMan. UFD1L rs5746744 and rs1547931 polymorphisms were genotyped by Restriction Fragment Length Polymorphism. Tbx1 mutations were investigated in patients who have the 22q11.2 syndrome phenotype but no detectable deletion by sequencing. Affymetrix 6.0 microarrays in a pool of DNA samples was used to detect copy number variations. Schizophrenia patients were evaluated by neuropsychological tests and structural neuroimaging. Results: All karyotypes were normal. One patient presented a 1.5 megabases deletion in 22q11.2 region. UFD1L rs5992403 and ZDHHC8 rs175174 polymorphisms were associated with age at onset of schizophrenia. Moreover, all studied polymorphisms may have a role in brain morphology and cognition. No mutation, only polymorphisms, in TBX1 gene was found in 22q11.2 patients. Three regions were amplified in DNA pools of schizophrenia patients: 1p36.32, 2q37.3 e 22q11.21. Conclusion: This study evaluated the role of genetic factors in some schizophrenia fenotypes, providing a better understanding of its etiology and pathophysiology.

ASSUNTO(S)

esquizofrenia síndrome de digeorge polimorfismo cnv gene morfologia schizophrenia and 22q11 deletion syndrome: characterization of relevant genes.

Documentos Relacionados

• Síndrome de deleção 22q11.2: compreendendo o CATCH22
• Síndrome de deleção 22q11.2: importância da avaliação clínica e técnica de FISH
• Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2
• Síndrome de deleção 22q11.2 e cardiopatias congênitas
• Hematological abnormalities and 22q11.2 deletion syndrome