No association of two missense variations of the benzodiazepine receptor (peripheral) gene and mood disorders in a Japanese sample

Kurumaji, Akeo; Nomoto, Hitoshi; Yamada, Kazuo; Yoshikawa, Takeo; Toru, Michio

doi:10.1002/ajmg.1194

Cited by 10 publications

(8 citation statements)

References 24 publications

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“…1B). The same variations were reported in the PBR gene isolated from other human tumoral cell lines (Hardwick et al, 1999) and, with high frequency, in genomic DNA of normal cells (Kurumaji et al, 2001).…”

Section: Methodssupporting

confidence: 77%

“…Here, we report that Jurkat cells expressed PBR with unusual affinity constants for PBR ligands. Moreover, we demonstrated that the Jurkat PBR gene contains two point mutations reported previously in other human tumoral cell lines (Hardwick et al, 1999) and in normal cells (Kurumaji et al, 2001). …”

supporting

confidence: 76%

“…Compared with the human GenBank PBR sequence, JuPBR showed two point mutations resulting in the change of alanine to threonine (A147T) and of histidine to arginine (H162R) localized in the fifth putative transmembrane region and in the carboxyl-terminal region of the PBR, respectively. The missense variants (A147T; H162R) have been found in other tumoral cell lines, such as MDA-231 (Hardwick et al, 1999) and, with high frequency, in genomic DNA of normal cells (Kurumaji et al, 2001), suggesting that they can be the consequence of single nucleotide polymorphisms of human PBR gene. It is not known whether these mutations have any significant effect on PBR structure and function.…”

Section: Discussionmentioning

confidence: 99%

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Peripheral Benzodiazepine Receptor: Characterization in Human T-Lymphoma Jurkat Cells

Costa

Salvetti²,

Rossi³

et al. 2005

Mol Pharmacol

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Peripheral benzodiazepine receptor (PBR) has been considered a promising drug target for cancer therapy, and several ligands have been developed for this purpose. Human T-lymphoma Jurkat cells have been considered as lacking PBR and are often used as negative control to prove the specificity of PBR ligands effects. It is surprising that we evidenced PBR protein expression in this cell line by means of Western blotting and immunocytochemistry assays using specific anti-PBR antibodies. The pharmacological profile of the classic ligands showed that PK11195 was the most potent inhibitor in the radioligand binding assays followed by Ro5-4864 and diazepam, whereas clonazepam, a specific ligand for the central-type receptor, showed a K i Ͼ1.0 ϫ 10 Ϫ4 M. By a combined strategy of reverse transcriptase-polymerase chain reaction and Southern blot experiments, we succeeded in isolating and cloning the full-length

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Section: Methodssupporting

confidence: 77%

supporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Peripheral Benzodiazepine Receptor: Characterization in Human T-Lymphoma Jurkat Cells

Costa

Salvetti²,

Rossi³

et al. 2005

Mol Pharmacol

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“…It should be noted that a study in a Japanese sample (n. cases = 94; n. controls = 359) found no association of rs6971 with BD (Kurumaji et al, 2001). However, whilst the minor allele frequency is 30% in Europeans, it is only 4% in the Japanese population.…”

Section: Discussionmentioning

confidence: 86%

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18kDa Translocator Protein (TSPO)

Colasanti¹,

Owen²,

Grozeva³

et al. 2013

Psychoneuroendocrinology

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SummaryTSPO mediated transport of cholesterol into the mitochondrion is a necessary step in steroid synthesis. The rs6971 polymorphism in the TSPO gene causes an amino acid substitution (Ala147Thr) within the transmembrane domain where the cholesterol-binding pocket is located, and has been shown to affect the steroidogenic pathway. We report a nominal association between this TSPO polymorphism and the diagnosis of Bipolar Disorder in both the genome-wide dataset of the Wellcome Trust Case–Control Consortium and the Psychiatric Genome-Wide Association Study Consortium Bipolar Disorder group (OR = 1.11, p = 0.007; OR = 1.10, p = 0.011, respectively). We propose that the amino acid substitution affects hypothalamic–pituitary–adrenal (HPA) regulation, and hence may predispose to Bipolar Disorder. This supports the hypothesis that HPA dysregulation has a causal role in Bipolar Disorder, and is not just a consequence of the disease.

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“…Genotypic and allelic analyses of the 485G > A revealed significant differences between patients with panic disorder and the comparison subjects [171]. However, no association of two missense variations of the PBR gene and mood disorders was found in a Japanese sample [172].…”

Section: Gaba and Depression In Humansmentioning

confidence: 97%

GABAergic Contributions to the Pathophysiology of Depression and the Mechanism of Antidepressant Action

Sanacora

Sarıçiçek²

2007

CNSNDDT

115

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Increasing evidence suggests that abnormalities in amino neurotransmission are associated with the neurobiology of depression. Preclinical studies demonstrate that GABA modulating agents are active in commonly used rodent behavioral models of antidepressant activity, and that chronic administration of antidepressant drugs induces marked changes in GABAergic function. In humans, depressed patients have lower plasma, CSF and brain GABA concentrations than non-depressed comparison subjects. The recent discovery that several anticonvulsant and GABA-mimetic agents possess mood stabilizing and antidepressant properties has further increased interest in these findings. This review outlines the existing literature investigating the possible involvement of GABA in the neurobiology of depression and briefly highlights how this information may afford new targets for antidepressant drug development.

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No association of two missense variations of the benzodiazepine receptor (peripheral) gene and mood disorders in a Japanese sample

Cited by 10 publications

References 24 publications

Peripheral Benzodiazepine Receptor: Characterization in Human T-Lymphoma Jurkat Cells

Peripheral Benzodiazepine Receptor: Characterization in Human T-Lymphoma Jurkat Cells

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18kDa Translocator Protein (TSPO)

GABAergic Contributions to the Pathophysiology of Depression and the Mechanism of Antidepressant Action

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