Graham Rona K, Pouladi Mahmoud A, Joshi Prasad, Lu Ge, Deng Yu, Wu Nan-Ping, Figueroa Bryan E, Metzler Martina, André Véronique M, Slow Elizabeth J, Raymond Lynn, Friedlander Robert, Levine Michael S, Leavitt Blair R, Hayden Michael R
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4.
J Neurosci. 2009 Feb 18;29(7):2193-204. doi: 10.1523/JNEUROSCI.5473-08.2009.
Huntington disease (HD) is a neurodegenerative disorder caused by an expanded CAG tract in the HD gene. Polyglutamine expansion of huntingtin (htt) results in early, progressive loss of medium spiny striatal neurons, as well as cortical neurons that project to the striatum. Excitotoxicity has been postulated to play a key role in the selective vulnerability of striatal neurons in HD. Early excitotoxic neuropathological changes observed in human HD brain include increased quinolinate (QUIN) concurrent with proliferative changes such as increased spine density and dendritic length. In later stages of the disease, degenerative-type changes are apparent, such as loss of dendritic arborization, a reduction in spine density and reduced levels of 3-hydroxykynurenine and QUIN. It is currently unknown whether sensitivity to excitotoxic stress varies between initiation and progression of disease. Here, we have assessed the excitotoxic phenotype in the YAC128 mouse model of HD by examining the response to excitotoxic stress at different stages of disease. Our results demonstrate that YAC128 mice display enhanced sensitivity to NMDA ex vivo and QUIN in vivo before obvious phenotypic changes. In contrast, 10-month-old symptomatic YAC128 mice are resistant to QUIN-induced neurotoxicity. These findings are paralleled by a significant increase in NMDAR-mediated membrane currents in presymptomatic YAC128 dissociated medium spiny neurons progressing to reduced NMDAR-mediated membrane currents with disease progression. These data highlight the dynamic nature of the mutant htt-mediated excitotoxic phenotype and suggests that therapeutic approaches to HD may need to be altered, depending on the stage and development of the disease.
亨廷顿舞蹈症(HD)是一种由HD基因中CAG序列扩增引起的神经退行性疾病。亨廷顿蛋白(htt)的多聚谷氨酰胺扩增导致中等棘状纹状体神经元以及投射到纹状体的皮质神经元早期进行性丧失。兴奋性毒性被认为在HD纹状体神经元的选择性易损性中起关键作用。在人类HD大脑中观察到的早期兴奋性毒性神经病理变化包括喹啉酸(QUIN)增加,同时伴有增殖性变化,如棘突密度增加和树突长度增加。在疾病后期,退行性变化明显,如树突分支减少、棘突密度降低以及3-羟基犬尿氨酸和QUIN水平降低。目前尚不清楚对兴奋性毒性应激的敏感性在疾病起始和进展阶段是否有所不同。在此,我们通过检测YAC128 HD小鼠模型在疾病不同阶段对兴奋性毒性应激的反应,评估了其兴奋性毒性表型。我们的结果表明,在明显的表型变化之前,YAC128小鼠在体外对N-甲基-D-天冬氨酸(NMDA)和在体内对QUIN表现出增强的敏感性。相比之下,10个月大的有症状YAC128小鼠对QUIN诱导的神经毒性具有抗性。这些发现与无症状YAC128分离的中等棘状神经元中N-甲基-D-天冬氨酸受体(NMDAR)介导的膜电流显著增加平行,随着疾病进展,NMDAR介导的膜电流逐渐减少。这些数据突出了突变型htt介导的兴奋性毒性表型的动态性质,并表明HD的治疗方法可能需要根据疾病的阶段和发展情况进行改变。