Department of Pediatrics, Jikei University School of Medicine, Tokyo 105-8461, Japan.
Pediatr Neurol. 2010 Jan;42(1):65-8. doi: 10.1016/j.pediatrneurol.2009.08.007.
The N188S mutation in Gaucher disease is associated with myoclonus epilepsy. We performed genetic analysis on a patient with progressive myoclonus epilepsy, who had received antiepileptic drugs for over 10 years. We detected N188S/G199D on the gene encoding glucocerebrosidase. Mutant proteins carrying each mutation were expressed in COS-1 cells (a commonly used cell line which derives from kidney cells of the African green monkey). Measurements of enzymatic activity and Western blotting analysis were performed. When residual activities were measured, glucocerebrosidase with the N188S mutation exhibited 50% activity of the wild type, and with G199D, 7.4%. Neither mutation influenced the stability of the enzyme protein. These data suggested a diagnosis of Gaucher disease for this patient, and indicated that G199D is a novel mutation.
N188S 突变与脑苷脂沉积病相关的肌阵挛性癫痫。我们对一名患有进行性肌阵挛性癫痫的患者进行了基因分析，该患者已接受抗癫痫药物治疗 10 多年。我们在编码葡萄糖脑苷脂酶的基因上检测到 N188S/G199D 突变。将每种突变的突变蛋白在 COS-1 细胞（一种常用的来源于非洲绿猴肾细胞的细胞系）中表达。进行酶活性测定和 Western blot 分析。当测量残留活性时，N188S 突变的葡萄糖脑苷脂酶表现出野生型的 50%活性，而 G199D 为 7.4%。这两种突变都不影响酶蛋白的稳定性。这些数据提示该患者患有脑苷脂沉积病，表明 G199D 是一种新的突变。
