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Title: NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
Authors: Ruano, Dina 
Macedo, António 
Dourado, Ana 
Soares, Maria João 
Valente, José 
Coelho, Isabel 
Santos, Vítor 
Azevedo, Maria Helena 
Goodman, Ann 
Hutz, Mara Helena 
Gama, Clarissa 
Lobato, Maria Inês 
Belmonte-de-Abreu, Paulo 
Palha, Joana Almeida 
Issue Date: 2004
Citation: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 128B:1 (2004) 41-45
Abstract: The present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human brain development and regulation. In the absence of Nurr1 (the mouse homologue to human NR4A2), ventral mesencephalic dopaminergic mouse neurons evidence severe developmental failure, a condition that is lethal soon after birth. Nurr1 involvement in the dopaminergic system makes it a good candidate for study in neuropsychiatric disorders such as schizophrenia and Parkinson disease. Evidence by others support this hypothesis (1) mapping of the NR4A2 gene to chromosome 2q22-23, a region with suggestive linkage to schizophrenia and (2) identification of mutations in patients with schizophrenia (c.366-369delTAC, c.308A > G, c.-469delG), manic depression (c.289A > G), and familial Parkinson's disease (c.-291delT, c.-245T > G). To further extend these observations, we searched for all these mutations in 176 Caucasian Portuguese and 82 Caucasian Brazilian subjects with lifetime diagnosis of schizophrenia. The study failed to identify any of the described mutations in patients or controls. Nevertheless, these negative results do not exclude altered expression of nuclear receptors in schizophrenia or the presence of other mutations. © 2004 Wiley-Liss, Inc.
DOI: 10.1002/ajmg.b.30031
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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