Center for Neurobehavioral Genetics and Semel Institute for Neuroscience & Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States.
Center for Neurobehavioral Genetics and Semel Institute for Neuroscience & Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States.
Curr Opin Neurobiol. 2018 Feb;48:79-89. doi: 10.1016/j.conb.2017.10.019. Epub 2017 Nov 7.
Huntington's disease (HD), a dominantly inherited neurodegenerative disease, is defined by its genetic cause, a CAG-repeat expansion in the HTT gene, its motor and psychiatric symptomology and primary loss of striatal medium spiny neurons (MSNs). However, the molecular mechanisms from genetic lesion to disease phenotype remain largely unclear. Mouse models of HD have been created that exhibit phenotypes partially recapitulating those in the patient, and specifically, cortico-striatal disconnectivity appears to be a shared pathogenic event shared by HD mouse models and patients. Molecular studies have begun to unveil converging molecular and cellular pathogenic mechanisms that may account for cortico-striatal miscommunication in various HD mouse models. Systems biological approaches help to illuminate synaptic molecular networks as a nexus for HD cortio-striatal pathogenesis, and may offer new candidate targets to modify the disease.
亨廷顿病(HD)是一种显性遗传性神经退行性疾病,其遗传病因是 HTT 基因中的 CAG 重复扩展,其运动和精神症状以及纹状体中间神经元(MSNs)的主要丧失。然而,从遗传损伤到疾病表型的分子机制在很大程度上仍不清楚。已经创建了亨廷顿病的小鼠模型,这些模型表现出部分重现患者表型的表型,特别是皮质纹状体失连接似乎是亨廷顿病小鼠模型和患者共有的一种共同的致病事件。分子研究已经开始揭示趋同的分子和细胞致病机制,这些机制可能解释了各种亨廷顿病小鼠模型中皮质纹状体的通讯障碍。系统生物学方法有助于阐明突触分子网络作为亨廷顿病皮质纹状体发病机制的枢纽,并可能为修饰疾病提供新的候选靶点。