Watanabe Mitsunori, Jackson Mandy, Ikeda Masaki, Mizushima Kazuyuki, Amari Masakuni, Takatama Masamitsu, Hirai Shunsaku, Ikeda Yoshio, Shizuka-Ikeda Masami, Okamoto Koichi
Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Gunma 371-8511, Japan.
Brain Res. 2006 Feb 16;1073-1074:20-4. doi: 10.1016/j.brainres.2005.12.046. Epub 2006 Jan 26.
Bunina bodies, small eosinophilic intraneuronal inclusions, stain positive for cystatin C and are the only specific pathological hallmark of amyotrophic lateral sclerosis (ALS). We screened the cystatin C gene (CST3) for mutations in 57 sporadic ALS patients and 12 familial ALS cases that did not possess a SOD1 mutation. We detected the known polymorphism in exon 1, a G/A transition at +73, in both familial and sporadic ALS patients. However, the allelic and genotypic frequencies of the +73 G/A polymorphism did not differ between ALS patients and control samples. No other mutation was detected in the ALS patients. The results reported here indicate that there may not be a direct genetic link between cystatin C and ALS, and it may be that deficits occur in proteins that interact with cystatin C.
布尼纳小体是神经元内嗜酸性小内含物，对半胱氨酸蛋白酶抑制剂C呈阳性染色，是肌萎缩侧索硬化症（ALS）唯一特定的病理标志。我们筛查了57例散发性ALS患者和12例无SOD1突变的家族性ALS病例的半胱氨酸蛋白酶抑制剂C基因（CST3）是否存在突变。我们在家族性和散发性ALS患者中均检测到外显子1中已知的多态性，即+73处的G/A转换。然而，ALS患者与对照样本之间+73 G/A多态性的等位基因和基因型频率并无差异。在ALS患者中未检测到其他突变。此处报告的结果表明，半胱氨酸蛋白酶抑制剂C与ALS之间可能不存在直接的遗传联系，与半胱氨酸蛋白酶抑制剂C相互作用的蛋白质可能出现缺陷。
