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Proton Magnetic Resonance Spectroscopy in 22q11 Deletion Syndrome 英文参考文献
ProtonMagneticResonanceSpectroscopyin22q11
DeletionSyndrome
FabianadaSilvaAlves1*,ErikBoot1,2,NicoleSchmitz1,AartNederveen3,JacobVorstman4 ,Christina
Lavini3,PetraPouwels5,LieuwedeHaan1,DonLinszen1,TheresevanAmelsvoort1,6
1Department of Psychiatry, Academic Medical Centre Amsterdam, Amsterdam, The Netherlands, 2Ipse de Bruggen, Centre for People with Intellectual Disability,
Zwammerdam, TheNetherlands,3DepartmentofRadiology, AcademicMedical Centre Amsterdam,Amsterdam, TheNetherlands, 4Department of Psychiatry, Rudolf
MagnusInstituteofNeuroscience,UniversityMedicalCentreUtrecht,Utrecht,TheNetherlands,5DepartmentofPhysicsandMedicalTechnology,VUUniversityMedical
CentreAmsterdam,Amsterdam,TheNetherlands,6ArkinMentalHealthCare,Amsterdam,TheNetherlands
Abstract
Objective:Peoplewithvelo-cardio-facialsyndromeor22q11deletionsyndrome(22q11DS)havebehavioral,cognitiveand
psychiatric problems. Approximately 30% of affected individuals develop schizophrenia-like psychosis. Glutamate
dysfunction is thought toplay acrucial role in schizophrenia. However, it is unknown if and how theglutamate 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
presentin22q11DS.
Method: We employed proton magnetic resonance spectroscopy (1H-MRS) to quantify glutamate and other
neurometabolites in the dorsolateral prefrontal cortex (DLPFC) and hippocampus of 22 adults with 22q11DS (22q11DS
SCZ+)andwithout(22q11DSSCZ2)schizophreniaand23age-matchedhealthycontrols.Also,plasmaprolinelevelswere
determinedinthe22q11DSgroup.
Results: We found significantly increased concentrations of glutamate and myo-inositol in the hippocampal region of
22q11DS SCZ+ compared to 22q11DS SCZ2. There were no significant differences in levels of plasma proline between
22q11DSSCZ+and22q11DSSCZ2.Therewasnorelationshipbetweenplasmaprolin
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