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尽管全长 BACHD 和 YAC128 小鼠具有相似的行为和神经病理学特征,但神经化学和聚集物存在明显差异。

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice.

机构信息

Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Child and Family Research Institute, Vancouver, BC, Canada.

出版信息

Hum Mol Genet. 2012 May 15;21(10):2219-32. doi: 10.1093/hmg/dds037. Epub 2012 Feb 9.

Abstract

The development of animal models of Huntington disease (HD) has enabled studies that help define the molecular aberrations underlying the disease. The BACHD and YAC128 transgenic mouse models of HD harbor a full-length mutant huntingtin (mHTT) and recapitulate many of the behavioural and neuropathological features of the human condition. Here, we demonstrate that while BACHD and YAC128 animals exhibit similar deficits in motor learning and coordination, depressive-like symptoms, striatal volume loss and forebrain weight loss, they show obvious differences in key features characteristic of HD. While YAC128 mice exhibit significant and widespread accumulation of mHTT striatal aggregates, these mHTT aggregates are absent in BACHD mice. Furthermore, the levels of several striatally enriched mRNA for genes, such as DARPP-32, enkephalin, dopamine receptors D1 and D2 and cannabinoid receptor 1, are significantly decreased in YAC128 but not BACHD mice. These findings may reflect sequence differences in the human mHTT transgenes harboured by the BACHD and YAC128 mice, including both single nucleotide polymorphisms as well as differences in the nature of CAA interruptions of the CAG tract. Our findings highlight a similar profile of HD-like behavioural and neuropathological deficits and illuminate differences that inform the use of distinct endpoints in trials of therapeutic agents in the YAC128 and BACHD mice.

摘要

亨廷顿病(HD)动物模型的发展使有助于定义疾病基础分子异常的研究成为可能。BACHD 和 YAC128 转基因 HD 小鼠模型携带全长突变亨廷顿蛋白(mHTT),并重现了人类疾病的许多行为和神经病理学特征。在这里,我们证明,尽管 BACHD 和 YAC128 动物在运动学习和协调、抑郁样症状、纹状体体积损失和前脑重量损失方面表现出相似的缺陷,但它们在 HD 的关键特征上存在明显差异。虽然 YAC128 小鼠表现出显著且广泛的 mHTT 纹状体聚集物积累,但这些 mHTT 聚集物在 BACHD 小鼠中不存在。此外,几种在纹状体中丰富的基因的 mRNA 水平,如 DARPP-32、脑啡肽、多巴胺受体 D1 和 D2 以及大麻素受体 1,在 YAC128 小鼠中显著降低,但在 BACHD 小鼠中不降低。这些发现可能反映了 BACHD 和 YAC128 小鼠中携带的人类 mHTT 转基因的序列差异,包括单核苷酸多态性以及 CAG 重复中断的性质差异。我们的发现突出了类似的 HD 样行为和神经病理学缺陷,并阐明了在 YAC128 和 BACHD 小鼠中使用不同终点来评估治疗药物的差异。

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