IDDRC, Jane and Terry Semel Institute for Neuroscience & Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Neuroscientist. 2022 Feb;28(1):20-40. doi: 10.1177/1073858420972662. Epub 2020 Nov 16.
The understanding of the functional and structural changes occurring in the cerebral cortex and basal ganglia in Huntington's disease (HD) has benefited considerably from the generation of genetic animal models. Most studies of synaptic alterations in HD models have focused on the striatum, but a more complete picture of synaptic dysfunction in the cortico-basal ganglia-cortical loop is emerging. Here, we provide a review and analysis of current developments in the study of synaptic alterations in these areas using HD rodent models. Recent evidence indicates that cortical maldevelopment plays a role in synaptic dysfunction along the corticostriatal pathway that may have its roots in the way mutant huntingtin interacts with synaptic proteins. Furthermore, a progressive disconnection in the corticostriatal pathway leads to abnormal function engaging extrasynaptic N-methyl-D-aspartate glutamate receptors that contribute to eventual cell degeneration. In addition, biphasic increases followed by decreases in glutamate and dopamine release in the striatum could explain contrasting symptomatology in early and late stages of the disease. Changes in striatal output regions also are beginning to be examined. Finally, we highlight some therapeutic avenues aimed at rescuing synaptic dysfunction.
对亨廷顿病(HD)大脑皮层和基底神经节中发生的功能和结构变化的理解得益于遗传动物模型的产生。大多数 HD 模型中突触改变的研究都集中在纹状体,但皮质-基底神经节-皮质回路中突触功能障碍的更完整图像正在出现。在这里,我们使用 HD 啮齿动物模型,对这些区域中突触改变的研究现状进行了综述和分析。最近的证据表明,皮质发育不良在皮质纹状体通路上的突触功能障碍中起作用,这可能与突变亨廷顿蛋白与突触蛋白的相互作用方式有关。此外,皮质纹状体通路上的渐进性脱节导致异常功能,涉及到突触外 N-甲基-D-天冬氨酸谷氨酸受体,最终导致细胞退化。此外,纹状体中谷氨酸和多巴胺释放的双相增加随后减少可以解释疾病早期和晚期症状的对比。纹状体输出区域的变化也开始被检查。最后,我们强调了一些旨在挽救突触功能障碍的治疗途径。