title: Proton magnetic resonance spectroscopy in 22q11 deletion syndrome.
abstract: OBJECTIVE
  People with velo-cardio-facial syndrome or 22q11 deletion syndrome (22q11DS) have behavioral, cognitive and psychiatric problems. Approximately 30% of affected individuals develop schizophrenia-like psychosis. Glutamate dysfunction is thought to play a crucial role in schizophrenia. However, it is unknown if and how the glutamate system is altered in 22q11DS. People with 22q11DS are vulnerable for haploinsufficiency of PRODH, a gene that codes for an enzyme converting proline into glutamate. Therefore, it can be hypothesized that glutamatergic abnormalities may be present in 22q11DS.
  
  
  METHODS
  We employed proton magnetic resonance spectroscopy ((1)H-MRS) to quantify glutamate and other neurometabolites in the dorsolateral prefrontal cortex (DLPFC) and hippocampus of 22 adults with 22q11DS (22q11DS SCZ+) and without (22q11DS SCZ-) schizophrenia and 23 age-matched healthy controls. Also, plasma proline levels were determined in the 22q11DS group.
  
  
  RESULTS
  We found significantly increased concentrations of glutamate and myo-inositol in the hippocampal region of 22q11DS SCZ+ compared to 22q11DS SCZ-. There were no significant differences in levels of plasma proline between 22q11DS SCZ+ and 22q11DS SCZ-. There was no relationship between plasma proline and cerebral glutamate in 22q11DS.
  
  
  CONCLUSIONS
  This is the first in vivo(1)H-MRS study in 22q11DS. Our results suggest vulnerability of the hippocampus in the psychopathology of 22q11DS SCZ+. Altered hippocampal glutamate and myo-inositol metabolism may partially explain the psychotic symptoms and cognitive impairments seen in this group of patients.
authors: Department of Psychiatry, Academic Medical Centre Amsterdam, Amsterdam, The Netherlands. F.daSilvaAlves@amc.nl
authors: Fabiana
authors: F
authors: da Silva Alves
authors: Erik
authors: E
authors: Boot
authors: Nicole
authors: N
authors: Schmitz
authors: Aart
authors: A
authors: Nederveen
authors: Jacob
authors: J
authors: Vorstman
authors: Christina
authors: C
authors: Lavini
authors: Petra J
authors: PJ
authors: Pouwels
authors: Petra
authors: P
authors: Pouwels
authors: Lieuwe
authors: L
authors: de Haan
authors: Don
authors: D
authors: Linszen
authors: Therese
authors: T
authors: van Amelsvoort
mesh_terms: D058165:22q11 Deletion Syndrome / Q000378:metabolism*; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D055815:Young Adult