Agatsuma Soh, Hiroi Noboru
Laboratory of Molecular Psychobiology, Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA.
Nihon Shinkei Seishin Yakurigaku Zasshi. 2005 Apr;25(2):79-84.
Several human chromosomal regions have been identified as candidate regions that play a role in schizophrenia. Deletion or duplication of chromosome 22q11 is associated with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), a disorder associated with high rates of schizophrenia as well as physical abnormalities (i.e., cardiovascular, parathyroid, thymic and craniofacial abnormalities). Recent mouse studies have identified several candidate genes for VCFS/DGS within the mouse homologue chromosome 16. Deletion of Tbx1, Prodh and Comt within mouse chromosome 16 causes several physical and behavioral features of VCFS/DGS. As VCFS/DGS is likely to represent a genetic subtype of schizophrenia, pinpointing the genetic basis for this specific subtype will contribute to a better understanding of this neuropsychiatric disorder.
几个人类染色体区域已被确定为在精神分裂症中起作用的候选区域。22q11染色体的缺失或重复与心脏颜面综合征/迪格奥尔格综合征(VCFS/DGS)相关,该疾病与精神分裂症的高发病率以及身体异常(即心血管、甲状旁腺、胸腺和颅面异常)有关。最近的小鼠研究已经在小鼠同源染色体16中确定了几个VCFS/DGS的候选基因。小鼠染色体16内Tbx1、Prodh和Comt的缺失会导致VCFS/DGS的几种身体和行为特征。由于VCFS/DGS可能代表精神分裂症的一种遗传亚型,确定这种特定亚型的遗传基础将有助于更好地理解这种神经精神疾病。