% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Gaebler:1018679,
author = {Gaebler, Arnim J. and Fakour, Nilüfer and Stöhr, Felix
and Zweerings, Jana and Taebi, Arezoo and Suslova, Mariia
and Dukart, Jürgen and Hipp, Joerg F. and Adhikari, Bhim M.
and Kochunov, Peter and Muthukumaraswamy, Suresh D. and
Forsyth, Anna and Eggermann, Thomas and Kraft, Florian and
Kurth, Ingo and Paulzen, Michael and Gründer, Gerhard and
Schneider, Frank and Mathiak, Klaus},
title = {{F}unctional connectivity signatures of {NMDAR} dysfunction
in schizophrenia—integrating findings from imaging
genetics and pharmaco-f{MRI}},
journal = {Translational Psychiatry},
volume = {13},
number = {1},
issn = {2158-3188},
address = {London},
publisher = {Nature Publishing Group},
reportid = {FZJ-2023-04973},
pages = {59},
year = {2023},
abstract = {Both, pharmacological and genome-wide association studies
suggest N-methyl-D-aspartate receptor (NMDAR) dysfunction
and excitatory/inhibitory (E/I)-imbalance as a major
pathophysiological mechanism of schizophrenia. The
identification of shared fMRI brain signatures of
genetically and pharmacologically induced NMDAR dysfunction
may help to define biomarkers for patient stratification.
NMDAR-related genetic and pharmacological effects on
functional connectivity were investigated by integrating
three different datasets: (A) resting state fMRI data from
146 patients with schizophrenia genotyped for the
disease-associated genetic variant rs7191183 of GRIN2A
(encoding the NMDAR 2 A subunit) as well as 142 healthy
controls. (B) Pharmacological effects of the NMDAR
antagonist ketamine and the GABA-A receptor agonist
midazolam were obtained from a double-blind, crossover
pharmaco-fMRI study in 28 healthy participants. (C) Regional
gene expression profiles were estimated using a postmortem
whole-brain microarray dataset from six healthy donors. A
strong resemblance was observed between the effect of the
genetic variant in schizophrenia and the ketamine versus
midazolam contrast of connectivity suggestive for an
associated E/I-imbalance. This similarity became more
pronounced for regions with high density of NMDARs,
glutamatergic neurons, and parvalbumin-positive
interneurons. From a functional perspective, increased
connectivity emerged between striato-pallido-thalamic
regions and cortical regions of the auditory-sensory-motor
network, while decreased connectivity was observed between
auditory (superior temporal gyrus) and visual processing
regions (lateral occipital cortex, fusiform gyrus, cuneus).
Importantly, these imaging phenotypes were associated with
the genetic variant, the differential effect of ketamine
versus midazolam and schizophrenia (as compared to healthy
controls). Moreover, the genetic variant was associated with
language-related negative symptomatology which correlated
with disturbed connectivity between the left posterior
superior temporal gyrus and the superior lateral occipital
cortex. Shared genetic and pharmacological functional
connectivity profiles were suggestive of E/I-imbalance and
associated with schizophrenia. The identified brain
signatures may help to stratify patients with a common
molecular disease pathway providing a basis for personalized
psychiatry.},
cin = {INM-7},
ddc = {610},
cid = {I:(DE-Juel1)INM-7-20090406},
pnm = {5252 - Brain Dysfunction and Plasticity (POF4-525)},
pid = {G:(DE-HGF)POF4-5252},
typ = {PUB:(DE-HGF)16},
pubmed = {36797233},
UT = {WOS:000935891400001},
doi = {10.1038/s41398-023-02344-2},
url = {https://juser.fz-juelich.de/record/1018679},
}