Yazawa I, Nukina N, Ichikawa Y, Kanazawa I
Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.
Neurology. 1996 Aug;47(2):586-8. doi: 10.1212/wnl.47.2.586.
The genetic defect responsible for dentatorubral-pallidoluysian atrophy (DRPLA) is an expansion of a CAG trinucleotide repeat. The DRPLA gene is translated into protein in the brain. In this study, we demonstrate that the wild-type and mutant genes are also translated into proteins, p190 and p205, in lymphoblastoid cells. The correlation between the age of onset and the expansion of polyglutamine stretch shown by slower electrophoretic mobility suggests that the polyglutamine stretch is directly involved in the acceleration of the disease process. Moreover, analysis of the protein in lymphoblastoid cells can be used as a diagnostic procedure for DRPLA.
导致齿状核红核苍白球路易体萎缩症（DRPLA）的基因缺陷是CAG三核苷酸重复序列的扩增。DRPLA基因在大脑中被翻译为蛋白质。在本研究中，我们证明野生型和突变型基因在淋巴母细胞中也被翻译为蛋白质p190和p205。发病年龄与通过较慢电泳迁移率显示的聚谷氨酰胺延伸扩增之间的相关性表明，聚谷氨酰胺延伸直接参与疾病进程的加速。此外，对淋巴母细胞中蛋白质的分析可作为DRPLA的诊断方法。
