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Journal Article

Citation

Kato T. Psychiatry Clin. Neurosci. 2014; 69(2): 65-76.

Affiliation

Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute.

Copyright

(Copyright © 2014, John Wiley and Sons)

DOI

10.1111/pcn.12247

PMID

25319632

Abstract

Recent developments in DNA sequencing technologies have allowed for genetic studies using whole genome or exome analysis, and these have been applied in the study of mood and psychotic disorders, including bipolar disorder, depression, schizophrenia, and schizoaffective disorder. In this review, current situation, recent findings, methodological problems, and future directions of whole genome/exome analysis studies of these disorders are summarized. Whole genome/exome studies of bipolar disorder have included pedigree analysis and case control studies, demonstrating the role of previously implicated pathways, such as calcium signaling, CREB signaling, and potassium channels. Extensive analysis of trio families and case control studies showed that de novo mutations play a role in the genetic architecture of schizophrenia and indicated that mutations in several molecular pathways including chromatin regulation, activity-regulated cytoskeleton, post synaptic density, NMDA (N-methyl-D-aspartate) receptor, and targets of FMRP (fragile X mental retardation protein), are associated with this disorder. Depression is a heterogeneous group of diseases and studies using exome analysis have been conducted to identify rare mutations causing Mendelian diseases that accompany depression. In the near future, clarification of the genetic architecture of bipolar disorder and schizophrenia is expected. Identification of causative mutations using these new technologies will facilitate neurobiological studies of these disorders.


Language: en

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