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亨廷顿舞蹈症绵羊早期和渐进性的昼夜节律异常因社会环境而显现出来。

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment.

作者信息

Morton A Jennifer, Rudiger Skye R, Wood Nigel I, Sawiak Stephen J, Brown Gregory C, Mclaughlan Clive J, Kuchel Timothy R, Snell Russell G, Faull Richard L M, Bawden C Simon

机构信息

Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK,

South Australian Research and Development Institute, Roseworthy, SA, Australia.

出版信息

Hum Mol Genet. 2014 Jul 1;23(13):3375-83. doi: 10.1093/hmg/ddu047. Epub 2014 Jan 31.

Abstract

Insidious changes in behaviour herald the onset of progressive neurodegenerative disorders such as Huntington's disease (HD), sometimes years before overt symptoms are seen. Sleep and circadian disturbances are particularly disruptive symptoms in patients with neurological disorders, but they are difficult to measure in humans. Here we studied circadian behaviour in transgenic HD sheep expressing the full-length human huntingtin protein with an expanded CAG repeat mutation in the juvenile range. Young HD sheep with no other symptoms exhibited circadian behavioural abnormalities that worsened with age. The most obvious change was a disturbed evening behaviour reminiscent of 'sundowning' that is seen in some patients with dementia. There were no structural abnormalities seen with magnetic resonance imaging, even in 5-year-old HD sheep. Interestingly, detection of the circadian abnormalities depended upon their social grouping. Abnormalities emerged in sheep kept in an 'HD-only' flock, whereas the behaviour of HD sheep kept mixed with normal sheep was relatively normal. Sleep-wake abnormalities in HD patients are also likely to be hidden, and may precede overt symptoms by many years. Sleep disruption has deleterious effects, even in normal people. The knock-on effects of sleep-wake disturbance may exacerbate, or even cause symptoms such as irritability and depression that are common in early stage HD patients. HD sheep will be useful models for probing the mechanisms underlying circadian behavioural disorder in HD.

摘要

行为的隐匿性变化预示着亨廷顿舞蹈症(HD)等进行性神经退行性疾病的发作,有时在明显症状出现前数年就已发生。睡眠和昼夜节律紊乱是神经疾病患者特别具有破坏性的症状,但在人类中难以测量。在此,我们研究了在幼年范围内表达具有扩展CAG重复突变的全长人类亨廷顿蛋白的转基因HD绵羊的昼夜节律行为。没有其他症状的年轻HD绵羊表现出昼夜节律行为异常,且随着年龄增长而恶化。最明显的变化是傍晚行为紊乱,类似于一些痴呆症患者出现的“日落综合征”。即使在5岁的HD绵羊中,磁共振成像也未发现结构异常。有趣的是,昼夜节律异常的检测取决于它们的社会分组。在“仅HD”羊群中饲养的绵羊出现了异常,而与正常绵羊混养的HD绵羊的行为相对正常。HD患者的睡眠-觉醒异常也可能被隐藏,并且可能在明显症状出现前多年就已存在。睡眠中断具有有害影响,即使在正常人中也是如此。睡眠-觉醒障碍的连锁反应可能会加剧,甚至导致HD早期患者常见的易怒和抑郁等症状。HD绵羊将成为探究HD中昼夜节律行为障碍潜在机制的有用模型。

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