Glutamatergic function in a genetic high-risk group for psychosis: A proton magnetic resonance spectroscopy study in individuals with 22q11.2 deletion

Maria Rogdaki, Pamela Hathway, Maria Gudbrandsen, Robert A McCutcheon, Sameer Jauhar, Eileen Daly, Oliver Howes

Research output: Contribution to journalArticlepeer-review


Glutamatergic dysregulation is one of the leading theories regarding the pathoaetiolopy of schizophrenia. Meta-analysis of magnetic resonance spectroscopy studies in schizophrenia shows increased levels of glutamate and glutamine (Glx) in the medial frontal cortex and basal ganglia in clinical high-risk groups for psychosis and increased glutamine levels in the thalamus, but it is unclear if this is also the case in people at genetic high risk for psychosis. The aim of this study was to investigate glutamatergic function in the anterior cingulate cortex, striatum and thalamus in carriers of a genetic variant (22q11.2 deletion) associated with a high risk for psychosis. 53 volunteers (23 22q11.2 deletion carriers and 30 controls) underwent proton magnetic resonance spectroscopy imaging and neuropsychological assessments for prodromal psychotic symptoms, schizotypy, anxiety, depression and FSIQ. We did not find any difference between groups in Glx in the anterior cingulate cortex, striatum or thalamus (Glx: t(50)=-1.26, p = 0.21; U = 251, z = -0.7, p = 0.49; U = 316, z= -0.26, p = 0.79, respectively). No correlation was detected between Glx levels in any region and symptomatology or FSIQ. Our findings indicate that glutamatergic function is not altered in people at genetic high risk of psychosis due to the 22q11.2 deletion, which could suggest that this is not the mechanism underlying psychosis risk in 22q11.2 deletion carriers.

Original languageEnglish
Pages (from-to)1333-1342
Number of pages10
JournalEuropean neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
Issue number12
Publication statusPublished - 1 Dec 2019


  • Adolescent
  • Adult
  • Corpus Striatum/metabolism
  • Cross-Sectional Studies
  • DiGeorge Syndrome/genetics
  • Female
  • Genetic Predisposition to Disease/genetics
  • Glutamic Acid/genetics
  • Glutamine/genetics
  • Gyrus Cinguli/metabolism
  • Humans
  • Magnetic Resonance Spectroscopy/methods
  • Male
  • Psychotic Disorders/genetics
  • Risk Factors
  • Thalamus/metabolism
  • Young Adult

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