Kim Sun-Hong, Shahani Neelam, Bae Byoung-Ii, Sbodio Juan I, Chung Youjin, Nakaso Kazuhiro, Paul Bindu D, Sawa Akira
Department of Psychiatry and Behavioral Sciences.
Neuroscience Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Hum Mol Genet. 2016 Jun 15;25(12):2514-2524. doi: 10.1093/hmg/ddw115. Epub 2016 May 19.
p53 has been implicated in the pathophysiology of Huntington's disease (HD). Nonetheless, the molecular mechanism of how p53 may play a unique role in the pathology remains elusive. To address this question at the molecular and cellular biology levels, we initially screened differentially expressed molecules specifically dependent on p53 in a HD animal model. Among the candidate molecules, wild-type p53-induced gene 1 (Wig1) is markedly upregulated in the cerebral cortex of HD patients. Wig1 preferentially upregulates the level of mutant Huntingtin (Htt) compared with wild-type Htt. This allele-specific characteristic of Wig1 is likely to be explained by higher affinity binding to mutant Htt transcripts than normal counterpart for the stabilization. Knockdown of Wig1 level significantly ameliorates mutant Htt-elicited cytotoxicity and aggregate formation. Together, we propose that Wig1, a key p53 downstream molecule in HD condition, play an important role in stabilizing mutant Htt mRNA and thereby accelerating HD pathology in the mHtt-p53-Wig1 positive feedback manner.
p53已被认为与亨廷顿舞蹈症(HD)的病理生理学有关。然而,p53在该疾病病理学中如何发挥独特作用的分子机制仍不清楚。为了在分子和细胞生物学水平上解决这个问题,我们最初在HD动物模型中筛选了特异性依赖p53的差异表达分子。在这些候选分子中,野生型p53诱导基因1(Wig1)在HD患者的大脑皮层中显著上调。与野生型亨廷顿蛋白(Htt)相比,Wig1优先上调突变型Htt的水平。Wig1的这种等位基因特异性特征可能是由于其与突变型Htt转录本的结合亲和力高于正常对应物,从而实现稳定化。敲低Wig1水平可显著改善突变型Htt引发的细胞毒性和聚集体形成。总之,我们认为Wig1是HD条件下p53的关键下游分子,它在稳定突变型Htt mRNA方面发挥重要作用,从而以mHtt-p53-Wig1正反馈方式加速HD病理学进程。