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亨廷顿病 Hdh(CAG)150 基因敲入小鼠行为表型的纵向分析。

Longitudinal analysis of the behavioural phenotype in Hdh(CAG)150 Huntington's disease knock-in mice.

机构信息

Brain Repair Group, School of Biosciences, Cardiff University, Wales, UK.

出版信息

Brain Res Bull. 2012 Jun 1;88(2-3):182-8. doi: 10.1016/j.brainresbull.2010.05.004. Epub 2010 May 8.

Abstract

In people with Huntington's disease, an expanded CAG repeat sequence on the HTT gene confers a toxic gain function resulting in a progressive and fatal neurodegeneration. The Hdh((CAG)Q150) Huntington's disease mouse line is a knock-in model of the disease that carries ∼150 CAG repeats on the normal mouse Htt locus. To determine that these mice are a useful model of the disease, they were assessed longitudinally for motor and cognitive deficits relevant to the human disease state. Each test was conducted bi-monthly across the lifespan of the animal. The results indicate that the Hdh(Q150/Q150) mice were impaired on each of the measures used, with deficits appearing on a 3-stage water maze test at 4 months of age and on prepulse inhibition at 6 months of age, both of which were prior to the manifestation of motor abnormalities. Grip strength, as measured by the inverted cage lid test, was reduced in the Hdh(Q150/Q150) mice from 10 months of age, when the male mice also exhibited weight loss relative to their wildtype littermates. On the accelerating rotarod, deficits in the carrier mice did not appear until they were 21 months old. Our results demonstrate that the Hdh((CAG)150) is a valid model of HD that displays early and progressive cognitive deficits that precede the onset of motor abnormalities.

摘要

在亨廷顿病患者中,HTT 基因上的 CAG 重复序列扩展赋予了毒性获得功能,导致进行性和致命的神经退行性变。Hdh((CAG)Q150)亨廷顿病小鼠模型是该疾病的一种基因敲入模型,在正常小鼠 Htt 基因座上携带约 150 个 CAG 重复序列。为了确定这些小鼠是该疾病的有用模型,对它们进行了与人类疾病状态相关的运动和认知缺陷的纵向评估。每项测试在动物的整个生命周期内每两个月进行一次。结果表明,Hdh(Q150/Q150)小鼠在使用的每种测量方法上都存在缺陷,在 4 个月大时的 3 阶段水迷宫测试和 6 个月大时的预脉冲抑制测试中出现缺陷,这两种测试均在运动异常出现之前。通过倒置笼盖测试测量的握力在 10 个月大时,Hdh(Q150/Q150)小鼠的握力下降,此时雄性小鼠相对于其野生型同窝仔鼠也出现体重减轻。在加速转棒上,直到载体小鼠 21 个月大时才出现缺陷。我们的结果表明,Hdh((CAG)150)是 HD 的有效模型,表现出早期和进行性认知缺陷,早于运动异常的发生。

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