Behavioural and molecular endophenotypes in psychotic disorders reveal heritable abnormalities in glutamatergic neurotransmission
File(s)
Author(s)
Type
Journal Article
Abstract
Psychotic disorders such as schizophrenia are biologically complex and carry huge population morbidity due to their prevalence, persistence and associated disability. Defined by features such as delusions and hallucinations, they involve cognitive dysfunction and neurotransmitter dysregulations that appear mostly to involve the dopaminergic and glutamatergic systems. A number of genetic and environmental factors are associated with these disorders but it has been difficult to identify the biological pathways underlying the principal symptoms. The endophenotype concept of stable, heritable traits that form a mechanistic link between genes and an overt expression of the disorder has potential to reduce the complexity of psychiatric phenotypes. In this study, we used a genetically sensitive design with individuals with a first episode of psychosis, their non-affected first-degree relatives and non-related healthy controls. Metabolomic analysis was combined with neurocognitive assessment to identify multilevel endophenotypic patterns: one concerned reaction times during the performance of cognitive and emotional tests that have previously been associated with the glutamate neurotransmission system, the other involved metabolites involved directly and indirectly in the co-activation of the N-methyl-D-aspartate receptor, a major receptor of the glutamate system. These cognitive and metabolic endophenotypes may comprise a single construct, such that genetically mediated dysfunction in the glutamate system may be responsible for delays in response to cognitive and emotional functions in psychotic disorders. This focus on glutamatergic neurotransmission should guide drug discovery and experimental medicine programmes in schizophrenia and related disorders.
Date Issued
2015-03-31
Date Acceptance
2015-01-20
Citation
Translational Psychiatry, 2015, 5
ISSN
2158-3188
Publisher
Nature Publishing Group
Journal / Book Title
Translational Psychiatry
Volume
5
Copyright Statement
© 2015 The Author(s). This work is licensed under a Creative Commons Attribution 4.0International License. The images or other third party material in thisarticle are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commonslicense, users will need to obtain permission from the license holder to reproduce thematerial. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/25826115
PII: tp201526
Subjects
Adult
Analysis of Variance
Chromatography, Liquid
Endophenotypes
Excitatory Amino Acids
Female
Genetic Predisposition to Disease
Glutamic Acid
Humans
Magnetic Resonance Spectroscopy
Male
Mass Spectrometry
Metabolomics
Neuropsychological Tests
Principal Component Analysis
Psychotic Disorders
Reaction Time
Receptors, N-Methyl-D-Aspartate
Synaptic Transmission
Young Adult
Publication Status
Published
Coverage Spatial
United States
Article Number
ARTN e540