TY - JOUR
T1 - The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome
T2 - A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study
AU - van Hooijdonk, Carmen F M
AU - Tse, Desmond H. Y.
AU - Roosenschoon, Julia
AU - Ceccarini, Jenny
AU - Booij, Jan
AU - van Amelsvoort, Therese A M J
AU - Vingerhoets, Claudia
N1 - Funding Information:
This research was funded by University Fund Limburg (grant no. S.2014.11), an ERC consolidator grant to Prof. Dr. Inez Myin-Germeys (ERC-2012-StG, project 309767–INTERACT), and by the National Institute of Mental Health of the National Institutes of Health under Award Number U01MH101722. Jenny Ceccarini was supported by a postdoc grant from the Research Foundation of Flanders.
Publisher Copyright:
© 2022 by the authors.
PY - 2022/9/19
Y1 - 2022/9/19
N2 - BACKGROUND: Individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk of developing psychosis and cognitive impairments, which may be related to dopaminergic and glutamatergic abnormalities. Therefore, in this exploratory study, we examined the association between dopaminergic and glutamatergic functioning in 22q11DS. Additionally, the associations between glutamatergic functioning and brain volumes in 22q11DS and healthy controls (HC), as well as those between dopaminergic and cognitive functioning in 22q11DS, were also examined.METHODS: In this cross-sectional, multimodal imaging study, glutamate, glutamine, and their combined concentration (Glx) were assessed in the anterior cingulate cortex (ACC) and striatum in 17 22q11DS patients and 20 HC using 7T proton magnetic resonance spectroscopy. Ten 22q11DS patients also underwent 18F-fallypride positron emission tomography to measure dopamine D2/3 receptor (D2/3R) availability in the ACC and striatum. Cognitive performance was assessed with the Cambridge Neuropsychological Test Automated Battery.RESULTS: No significant associations were found between ACC or striatal (1) glutamate, glutamine, or Glx concentrations and (2) D2/3R availability. In HC but not in 22q11DS patients, we found a significant relationship between ACC volume and ACC glutamate, glutamine, and Glx concentration. In addition, some aspects of cognitive functioning were significantly associated with D2/3R availability in 22q11DS. However, none of the associations remained significant after Bonferroni correction.CONCLUSIONS: Although our results did not reach statistical significance, our findings suggest an association between glutamatergic functioning and brain volume in HC but not in 22q11DS. Additionally, D2/3R availability seems to be related to cognitive functioning in 22q11DS. Studies in larger samples are needed to further elucidate our findings.
AB - BACKGROUND: Individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk of developing psychosis and cognitive impairments, which may be related to dopaminergic and glutamatergic abnormalities. Therefore, in this exploratory study, we examined the association between dopaminergic and glutamatergic functioning in 22q11DS. Additionally, the associations between glutamatergic functioning and brain volumes in 22q11DS and healthy controls (HC), as well as those between dopaminergic and cognitive functioning in 22q11DS, were also examined.METHODS: In this cross-sectional, multimodal imaging study, glutamate, glutamine, and their combined concentration (Glx) were assessed in the anterior cingulate cortex (ACC) and striatum in 17 22q11DS patients and 20 HC using 7T proton magnetic resonance spectroscopy. Ten 22q11DS patients also underwent 18F-fallypride positron emission tomography to measure dopamine D2/3 receptor (D2/3R) availability in the ACC and striatum. Cognitive performance was assessed with the Cambridge Neuropsychological Test Automated Battery.RESULTS: No significant associations were found between ACC or striatal (1) glutamate, glutamine, or Glx concentrations and (2) D2/3R availability. In HC but not in 22q11DS patients, we found a significant relationship between ACC volume and ACC glutamate, glutamine, and Glx concentration. In addition, some aspects of cognitive functioning were significantly associated with D2/3R availability in 22q11DS. However, none of the associations remained significant after Bonferroni correction.CONCLUSIONS: Although our results did not reach statistical significance, our findings suggest an association between glutamatergic functioning and brain volume in HC but not in 22q11DS. Additionally, D2/3R availability seems to be related to cognitive functioning in 22q11DS. Studies in larger samples are needed to further elucidate our findings.
KW - Benzamides
KW - Cognition
KW - Cross-Sectional Studies
KW - DiGeorge Syndrome/diagnostic imaging
KW - Dopamine
KW - Glutamic Acid
KW - Glutamine
KW - Humans
KW - Positron-Emission Tomography
KW - Proton Magnetic Resonance Spectroscopy
U2 - 10.3390/genes13091672
DO - 10.3390/genes13091672
M3 - Article
C2 - 36140839
SN - 2073-4425
VL - 13
JO - Genes
JF - Genes
IS - 9
M1 - 1672
ER -