Molecular Neurogenetics Unit, Center for Human Genetic Research, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.
Hum Mol Genet. 2011 Jun 15;20(12):2344-55. doi: 10.1093/hmg/ddr127. Epub 2011 Mar 29.
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.
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。