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纹状体神经元表达全长突变 huntingtin 表现出 N-钙黏蛋白减少和神经元生成改变。

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.

机构信息

Molecular Neurogenetics Unit, Center for Human Genetic Research, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

出版信息

Hum Mol Genet. 2011 Jun 15;20(12):2344-55. doi: 10.1093/hmg/ddr127. Epub 2011 Mar 29.

Abstract

The expanded CAG repeat that causes striatal cell vulnerability in Huntington's disease (HD) encodes a polyglutamine tract in full-length huntingtin that is correlated with cellular [ATP] and [ATP/ADP]. Since striatal neurons are vulnerable to energy deficit, we have investigated, in Hdh CAG knock-in mice and striatal cells, the hypothesis that decreased energetics may affect neuronal (N)-cadherin, a candidate energy-sensitive adhesion protein that may contribute to HD striatal cell sensitivity. In vivo, N-cadherin was sensitive to ischemia and to the effects of full-length mutant huntingtin, progressively decreasing in Hdh(Q111) striatum with age. In cultured striatal cells, N-cadherin was decreased by ATP depletion and STHdh(Q111) striatal cells exhibited dramatically decreased N-cadherin, due to decreased Cdh2 mRNA and enhanced N-cadherin turnover, which was partially normalized by adenine supplementation to increase [ATP] and [ATP/ADP]. Consistent with decreased N-cadherin function, STHdh(Q111) striatal cells displayed profound deficits in calcium-dependent N-cadherin-mediated cell clustering and cell-substratum adhesion, and primary Hdh(Q111) striatal neuronal cells exhibited decreased N-cadherin and an abundance of immature neurites, featuring diffuse, rather than clustered, staining for N-cadherin and synaptic vesicle markers, which was partially rescued by adenine treatment. Thus, mutant full-length huntingtin, via energetic deficit, contributes to decreased N-cadherin levels in striatal neurons, with detrimental effects on neurite maturation, strongly suggesting that N-cadherin-mediated signaling merits investigation early in the HD pathogenic disease process.

摘要

导致亨廷顿病(HD)纹状体细胞易损性的扩展 CAG 重复序列编码全长亨廷顿蛋白中的多聚谷氨酰胺链,与细胞 [ATP] 和 [ATP/ADP] 相关。由于纹状体神经元易受能量不足的影响,我们在 Hdh CAG 敲入小鼠和纹状体细胞中研究了以下假设:能量代谢降低可能会影响神经元(N)-钙黏蛋白,这是一种候选的能量敏感黏附蛋白,可能导致 HD 纹状体细胞敏感性增加。在体内,N-钙黏蛋白对缺血和全长突变型亨廷顿蛋白的作用敏感,随着年龄的增长,Hdh(Q111)纹状体中的 N-钙黏蛋白逐渐减少。在培养的纹状体细胞中,ATP 耗竭会降低 N-钙黏蛋白的表达,而 STHdh(Q111)纹状体细胞由于 Cdh2 mRNA 减少和 N-钙黏蛋白周转率增加而导致 N-钙黏蛋白显著减少,这部分通过添加腺嘌呤来增加 [ATP] 和 [ATP/ADP] 而得到部分纠正。与 N-钙黏蛋白功能降低一致,STHdh(Q111)纹状体细胞在钙依赖性 N-钙黏蛋白介导的细胞聚集和细胞-基底黏附方面存在严重缺陷,而原代 Hdh(Q111)纹状体神经元细胞的 N-钙黏蛋白减少,且有大量不成熟的神经突,表现为 N-钙黏蛋白和突触小泡标志物的染色弥散,而非聚集,而腺嘌呤处理部分挽救了这种情况。因此,突变全长亨廷顿蛋白通过能量不足导致纹状体神经元 N-钙黏蛋白水平降低,对神经突成熟产生不利影响,强烈表明 N-钙黏蛋白介导的信号转导值得在 HD 发病过程的早期进行研究。

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