Division of Basic Biomedical Sciences, Sanford School of Medicine, University of South Dakota, Vermillion, SD 57069, USA.
J Neurochem. 2012 Nov;123(3):437-46. doi: 10.1111/j.1471-4159.2012.07919.x. Epub 2012 Sep 10.
Huntington's disease (HD) is a devastating neurodegenerative disorder caused by an expansion of CAG trinucleotide repeats encoding for polyglutamine (polyQ) in the huntingtin (Htt) gene. Despite considerable effort, the mechanisms underlying the toxicity of the mutated Htt protein remains largely uncertain. To identify novel therapeutic targets, we recently employed the approach of tandem affinity purification and discovered that calretinin (Cr), a member of the EF-hand family of calcium-binding proteins, is preferentially associated with mHtt, although it also interacts with wild-type Htt. These observations were supported by coimmunoprecipitation and by colocalization of Cr with mHtt in neuronal cultures. Over- expression of Cr reduced mHtt-caused cytotoxicity in both non-neuronal and neuronal cell models of HD, whereas knockdown of Cr expression in the cells enhanced mHtt-caused neuronal cell death. In addition, over-expression of Cr was also associated with reduction of intracellular free calcium and activation of Akt. These results suggest that Cr may be a potential therapeutic target for treatment of HD.
亨廷顿病(HD)是一种由亨廷顿(Htt)基因中编码多聚谷氨酰胺(polyQ)的 CAG 三核苷酸重复扩展引起的毁灭性神经退行性疾病。尽管付出了相当大的努力,但突变型 Htt 蛋白毒性的机制在很大程度上仍不确定。为了确定新的治疗靶点,我们最近采用了串联亲和纯化的方法,发现钙调蛋白(Cr),一种钙结合蛋白 EF 手家族的成员,与 mHtt 优先结合,尽管它也与野生型 Htt 相互作用。这些观察结果得到了 coimmunoprecipitation 和 Cr 与神经元培养物中的 mHtt 共定位的支持。Cr 的过表达减少了 HD 中非神经元和神经元细胞模型中 mHtt 引起的细胞毒性,而细胞中 Cr 表达的敲低增强了 mHtt 引起的神经元细胞死亡。此外,Cr 的过表达还与细胞内游离钙的减少和 Akt 的激活有关。这些结果表明,Cr 可能是治疗 HD 的潜在治疗靶点。