22q11.2 deletion syndrome and schizophrenia

• 来源期刊: 生物化学与生物物理学报（英文版）
• 年，卷（期）: 2020,（11）
• 所属期刊栏目: Review
• 页码范围: 1181-1190
• 页数: 10页
• 语种: 英文

摘要

22q11.2 deletion is a common microdeletion that causes an array of developmental defects includ-ing 22q11.2 deletion syndrome(22q11DS)or DiGeorge syndrome and velocardiofacial syndrome.About 30％ of patients with 22q11.2 deletion develop schizophrenia.Mice with deletion of the ortholog region in mouse chromosome 16qA13 exhibit schizophrenia-like abnormal behaviors.It is suggested that the genes deleted in 22q11DS are involved in the pathogenesis of schizophrenia.Among these genes,COMT,ZDHHC8,DGCR8,and PRODH have been identified as schizophre-nia susceptibility genes.And DGCR2 is also found to be associated with schizophrenia.In this review,we focused on these five genes and reviewed their functions in the brain and the potential pathophysiological mechanisms in schizophrenia,which will give us a deeper understanding of the pathology of schizophrenia.