Butterworth N J, Williams L, Bullock J Y, Love D R, Faull R L, Dragunow M
Department of Pharmacology, The University of Auckland, New Zealand.
Neuroscience. 1998 Nov;87(1):49-53. doi: 10.1016/s0306-4522(98)00129-8.
Recent studies using DNA fragmentation assays suggest a role for apoptosis in cell death in Huntington's disease. In this study, we investigated the relationship between the degree of DNA fragmentation and the number of trinucleotide (CAG) repeats of the Huntington's disease gene in striatal tissue from Huntington's disease brains. We used frozen striatal tissue from 27 post mortem Huntington's disease brains (graded 0-4 on the Vonsattel classification, post mortem delay ranging from 4 to 41 h), plus control sections which were age, sex and post mortem delay matched from neurologically normal and Alzheimer's diseased striatal tissue. Our results show a significant positive correlation between the number of CAG repeats in the Huntington's disease gene and the degree of DNA fragmentation in Huntington's disease striatum. These results suggest that expanded CAG repeats in the Huntington's disease gene may lead to neuronal degeneration in Huntington's disease through an apoptotic mechanism.
近期使用DNA片段化分析的研究表明，细胞凋亡在亨廷顿舞蹈病的细胞死亡中发挥作用。在本研究中，我们调查了亨廷顿舞蹈病患者大脑纹状体组织中DNA片段化程度与亨廷顿舞蹈病基因三核苷酸（CAG）重复序列数量之间的关系。我们使用了27例亨廷顿舞蹈病患者死后的冷冻纹状体组织（根据冯萨特尔分类法分级为0 - 4级，死后延迟时间为4至41小时），以及来自神经正常和患阿尔茨海默病的对照纹状体组织切片，这些对照切片在年龄、性别和死后延迟时间上相匹配。我们的结果显示，亨廷顿舞蹈病基因中CAG重复序列的数量与亨廷顿舞蹈病纹状体中DNA片段化程度之间存在显著正相关。这些结果表明，亨廷顿舞蹈病基因中扩展的CAG重复序列可能通过凋亡机制导致亨廷顿舞蹈病中的神经元变性。
