Muir Walter J, Pickard Benjamin S, Blackwood Douglas H R
Division of Psychiatry, School of Molecular and Clinical Medicine, University of Edinburgh, Kennedy Tower, Royal Edinburgh Hospital, Morningside Park, Edinburgh, Scotland EH10 5HF, United Kingdom.
Curr Psychiatry Rep. 2008 Apr;10(2):140-7. doi: 10.1007/s11920-008-0025-2.
Chromosomal abnormalities can be powerful tools to identify genes that influence disease risk. The study of a chromosome translocation that segregated with severe psychiatric illness in a large family led directly to the discovery of a gene disrupted by a chromosomal breakpoint. Disrupted-in-Schizophrenia-1 (DISC1) is now an important candidate risk gene for schizophrenia and affective disorders. We review the work that led up to this discovery and the evidence that it is important in the wider population with schizophrenia and affective disorders. We also discuss the latest findings on the neuronal functions of the protein DISC1 encoded by the gene.
染色体异常可能是识别影响疾病风险基因的有力工具。对一个大家庭中与严重精神疾病相关的染色体易位的研究直接导致了一个因染色体断点而被破坏的基因的发现。精神分裂症破坏基因1(DISC1)现在是精神分裂症和情感障碍的一个重要候选风险基因。我们回顾了促成这一发现的研究工作,以及该基因在更广泛的精神分裂症和情感障碍人群中具有重要意义的证据。我们还讨论了该基因编码的蛋白质DISC1的神经元功能的最新发现。