精神分裂症断裂基因1与精神疾病

Disrupted-in-Schizophrenia-1 in Psychiatric Disorders

精神分裂症断裂基因(DISC)位于在一个苏格兰大家系中发现的t(1;11)(q42.1;q14.3)平衡易位的断裂点上,在这个基因座上发现了2个基因,由于精神分裂症在该家系中高发,所以将它们命名为DISC1和DISC2。目前,很多研究结果支持DISC基因座与精神分裂症、双相情感障碍、重症抑郁等精神疾病的易感性有关。在这2个基因中,DISC1被认为最可能是精神疾病的易感基因,因为易位直接破坏了它所编码的蛋白序列。现就DISC1研究的新进展及其可能的致病机制予以简要综述。

The disrupted-in-schizophrenia locus is located at the breakpoint of a t（ 1; 11） （ q42. 1; q14. 3） translocation from a large Scottish family. Due to the high prevalence of schizophrenia in this family,the two genes identified at this locus were named as DISC1 and DISC2. Many studies supported the relationship of DISC locus with the prevalence of schizophrenia,bipolar disorder and major depression. DISC1 was considered as the most probable susceptibility gene for psychiatric disorders as its protein sequence was directly disrupted by the translocation. Recent progress was summarized including the possible role of DISC1 in psychiatric disorders.