1 Psychiatry Res 2001 May 102: 87-90
PMID 11368843
Title No evidence for linkage between COMT and schizophrenia in a French population.
Abstract Catechol-O-methyltransferase is a candidate in the predisposition toschizophreniaboth because of its function and the position of its gene. A multipoint non-parametric linkage analysis and a transmission disequilibrium test were performed on 42 multiplex families genotyped forPMLI and Bcl I polymorphisms using two definitions of the affected phenotype. Neither linkage nor preferential transmission of any allele or haplotype was detected, failing to replicate previous positive findings.
SCZ Keywords schizophrenia, schizophrenics
2 Mol. Psychiatry 2008 Dec 13: 1138-48, 1069
PMID 18762802
Title Nuclear DISC1 regulates CRE-mediated gene transcription and sleep homeostasis in the fruit fly.
Abstract 混乱的,schizophrenia1 (DISC1)是啊ne of major susceptibility factors for a wide range of mental illnesses, includingschizophrenia, bipolar disorder, major depression and autism spectrum conditions. DISC1 is located in several subcellular domains, such as the centrosome and the nucleus, and interacts with various proteins, including NudE-like (NUDEL/NDEL1) and activating transcription factor 4 (ATF4)/CREB2. Nevertheless, a role for DISC1 in vivo remains to be elucidated. Therefore, we have generated a Drosophila model for examining normal functions of DISC1 in living organisms. DISC1 transgenic flies with preferential accumulation of exogenous human DISC1 in the nucleus display disturbance in sleep homeostasis, which has been reportedly associated with CREB signaling/CRE-mediated gene transcription. Thus, in mammalian cells, we characterized nuclear DISC1, and identified a subset of nuclear DISC1 that colocalizes with the promyelocytic leukemia (PML) bodies, a nuclear compartment for gene transcription. Furthermore, we identified three functional cis-elements that regulate the nuclear localization of DISC1. We also report that DISC1 interacts with ATF4/CREB2 and a corepressor N-CoR, modulating CRE-mediated gene transcription.
SCZ Keywords schizophrenia, schizophrenics
3 Neuropathology 2009 Dec 29: 684-8
PMID 19170897
Title Clinicopathological study of early progressive multifocal leukoencephalopathy incidentally found in a schizophrenia patient.
Abstract A 58-year-old Japanese man developed psychomotor excitement and hallucinatory paranoia at age 53, which gradually developed to residualschizophrenia. He was administered various common tranquilizers until death. Myelodysplastic syndrome was noted 10 months before death. A routine autopsy was performed. The brain weighed 1365 g, and macroscopic observation revealed no remarkable findings. However, microscopic examination disclosed cells with enlarged and basophilic nuclei, and unusual astrocytes in the demyelinated foci, especially at the corticomedullary junctions in the temporal and occipital lobes. On the other hand, the white matter was relatively intact. Immunohistochemical analysis using anti-JC virus protein, VP-1 antibody, demonstrated JC virus-infected cells in not only abnormal glial cells and neurons but also normal-looking cells, which are suggestive of progressive multifocal leukoencephalopathy (PML). Immunostaining for GFAP revealed severe gliosis and some scattered abnormal enlarged nuclear cells in the lesions. Some clusters of CD8-positive lymphocytes were seen, which kill infected cells.PMLcould be considered a short-term disease preceding death, as "incidentalPML" in this case. This is a rare autopsy case of earlyPMLoccurring in aschizophreniapatient withPML.
SCZ Keywords schizophrenia, schizophrenics
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