亨廷顿舞蹈症BAC转基因小鼠模型中运动活动的昼夜节律异常

Oakeshott Stephen, Balci Fuat, Filippov Igor, Murphy Carol, Port Russell, Connor David, Paintdakhi Ahmad, Lesauter Joseph, Menalled Liliana, Ramboz Sylvie, Kwak Seung, Howland David, Silver Rae, Brunner Dani

PsychoGenics, Inc.; Princeton University; Barnard College; CHDI Foundation; Barnard College and Columbia University and PsychoGenics/Columbia Univ.

PLoS Curr. 2011 Apr 5;3:RRN1225. doi: 10.1371/currents.RRN1225.

Huntington's disease (HD) is a progressive neurodegenerative disease marked by psychiatric and motor problems. Recently, these findings have been extended to deficits in sleep and circadian function that can be observed in HD patients and in HD mouse models, with abnormal sleep patterns correlating with symptom severity in patients. Here, we studied the behavior of the BAC HD mouse model using an 24/7 automated system; the results indicate significant lengthening of the circadian period in the mutant mice. These results reinforce previous findings in HD models and symptomatic HD patients, indicating that circadian dysfunction is a core feature of HD.

亨廷顿舞蹈症（HD）是一种以精神和运动问题为特征的进行性神经退行性疾病。最近，这些发现已扩展到HD患者和HD小鼠模型中可观察到的睡眠和昼夜节律功能缺陷，异常睡眠模式与患者症状严重程度相关。在这里，我们使用24/7自动化系统研究了BAC HD小鼠模型的行为；结果表明突变小鼠的昼夜节律周期显著延长。这些结果强化了之前在HD模型和有症状的HD患者中的发现，表明昼夜节律功能障碍是HD的一个核心特征。