A missense mutation in the ITGA8 gene, a cell adhesion molecule gene, is associated with schizophrenia in Japanese female patients

Supriyanto, Irwan; Watanabe, Yuichiro; Mouri, Kentaro; Shiroiwa, Kyoichi; Ratta‐apha, Woraphat; Yoshida, Masakuni; Tamiya, Genki; Sasada, Toru; Eguchi, Noriomi; Okazaki, Kenji; Sato, Osamu; Someya, Toshiyuki; Hishimoto, Akitoyo

doi:10.1016/j.pnpbp.2012.11.002

Cited by 13 publications

(12 citation statements)

References 37 publications

(33 reference statements)

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“…Among these genes, “GRIN2B”, “MSN” “CRH” and “CNTNAP2” have been reported to be related to schizophrenia in 56, 46, 35, and 29 literatures, respectively. LARS2 was upregulated in the transmitochrondrial cybrids carrying 3243A>G. The 3243A>G was detected in the postmortem brains of one patient with schizophrenia [86]. Jungerius et al [87] found a weak but significant association between PIK3C2G gene and schizophrenia.…”

Section: Experiments and Discussionmentioning

confidence: 99%

Integrating Imaging Genomic Data in the Quest for Biomarkers of Schizophrenia Disease

Deng¹,

Hu²,

Calhoun³

et al. 2018

IEEE/ACM Trans. Comput. Biol. and Bioinf.

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It's increasingly important but difficult to determine potential biomarkers of schizophrenia (SCZ) disease, owing to the complex pathophysiology of this disease. In this study, a network-fusion based framework was proposed to identify genetic biomarkers of the SCZ disease. A three-step feature selection was applied to single nucleotide polymorphisms (SNPs), DNA methylation, and functional magnetic resonance imaging (fMRI) data to select important features, which were then used to construct two gene networks in different states for the SNPs and DNA methylation data, respectively. Two health networks (one is for SNP data and the other is for DNA methylation data) were combined into one health network from which health minimum spanning trees (MSTs) were extracted. Two disease networks also followed the same procedures. Those genes with significant changes were determined as SCZ biomarkers by comparing MSTs in two different states and they were finally validated from five aspects. The effectiveness of the proposed discovery framework was also demonstrated by comparing with other network-based discovery methods. In summary, our approach provides a general framework for discovering gene biomarkers of the complex diseases by integrating imaging genomic data, which can be applied to the diagnosis of the complex diseases in the future.

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Section: Experiments and Discussionmentioning

confidence: 99%

Integrating Imaging Genomic Data in the Quest for Biomarkers of Schizophrenia Disease

Deng¹,

Hu²,

Calhoun³

et al. 2018

IEEE/ACM Trans. Comput. Biol. and Bioinf.

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“…71 Integrins are likely to contribute to imbalanced synaptic function in neurological diseases, 72 and a missense mutation in the ITGA8 gene was found to be protective against schizophrenia in Japanese female patients. 73 Although ITGA8 functioning in the hypothalamus remain to be investigated, its importance for brain development, neuron outgrowth and signal transduction suggests that differences in expression of ITGA8 may be implicated in behavioral differences between the tame and aggressive foxes.…”

Section: F I G U R Ementioning

confidence: 99%

Hypothalamic transcriptome of tame and aggressive silver foxes (Vulpes vulpes) identifies gene expression differences shared across brain regions

Rosenfeld

Hekman

Johnson

et al. 2019

Genes Brain and Behavior

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The underlying neurological events accompanying dog domestication remain elusive. To reconstruct the domestication process in an experimental setting, silver foxes (Vulpes vulpes) have been deliberately bred for tame vs aggressive behaviors for more than 50 generations at the Institute for Cytology and Genetics in Novosibirsk, Russia. The hypothalamus is an essential part of the hypothalamic-pituitary-adrenal axis and regulates the fight-or-flight response, and thus, we hypothesized that selective breeding for tameness/aggressiveness has shaped the hypothalamic transcriptomic profile. RNA-seq analysis identified 70 differentially expressed genes (DEGs). Seven of these genes, DKKL1, FBLN7, NPL, PRIMPOL, PTGRN, SHCBP1L and SKIV2L, showed the same direction expression differences in the hypothalamus, basal forebrain and prefrontal cortex. The genes differentially expressed across the three tissues are involved in cell division, differentiation, adhesion and carbohydrate processing, suggesting an association of

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“…Integrins, a family of heterodimeric cell adhesion molecules (CAMs) consisting of several different α - and β -subunits, interact with ECM molecules to carry out a multitude of developmental and adult brain functions. Support for the idea that integrins may be implicated in the pathology of schizophrenia comes in part from genetic studies pointing to association of this disorder with a number of integrin gene variants, such as SNPs in the ITGA8 and ITGB3 genes [ 81 , 82 ]. Additional evidence supporting the involvement of integrins in schizophrenia includes increased expression of integrin α (IIb) and β (IIIa) in first episode subjects with schizophrenia and, notably, abnormal cell adhesion in cultures from olfactory mucosa biopsies from patients with this disorder, which was ameliorated by antibodies blocking integrins [ 83 , 84 ].…”

Section: Schizophreniamentioning

confidence: 99%

In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders

2016

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Rapidly emerging evidence implicates perineuronal nets (PNNs) and extracellular matrix (ECM) molecules that compose or interact with PNNs, in the pathophysiology of several psychiatric disorders. Studies on schizophrenia, autism spectrum disorders, mood disorders, Alzheimer's disease, and epilepsy point to the involvement of ECM molecules such as chondroitin sulfate proteoglycans, Reelin, and matrix metalloproteases, as well as their cell surface receptors. In many of these disorders, PNN abnormalities have also been reported. In the context of the “quadripartite” synapse concept, that is, the functional unit composed of the pre- and postsynaptic terminals, glial processes, and ECM, and of the role that PNNs and ECM molecules play in regulating synaptic functions and plasticity, these findings resonate with one of the most well-replicated aspects of the pathology of psychiatric disorders, that is, synaptic abnormalities. Here we review the evidence for PNN/ECM-related pathology in these disorders, with particular emphasis on schizophrenia, and discuss the hypothesis that such pathology may significantly contribute to synaptic dysfunction.

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A missense mutation in the ITGA8 gene, a cell adhesion molecule gene, is associated with schizophrenia in Japanese female patients

Abstract: These results suggest that the ITGA8 gene might have gender-specific roles in the development of schizophrenia. Further replication and functional studies are required to confirm these findings.

Cited by 13 publications

References 37 publications

Integrating Imaging Genomic Data in the Quest for Biomarkers of Schizophrenia Disease

Integrating Imaging Genomic Data in the Quest for Biomarkers of Schizophrenia Disease

Hypothalamic transcriptome of tame and aggressive silver foxes (Vulpes vulpes) identifies gene expression differences shared across brain regions

In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders

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