Dyt1基因敲低小鼠的运动功能缺陷与多动
Motor deficits and hyperactivity in Dyt1 knockdown mice.
作者信息
Dang Mai T, Yokoi Fumiaki, Pence Morgan A, Li Yuqing
机构信息
Department of Molecular and Integrative Physiology, NeuroTech Group, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.
出版信息
Neurosci Res. 2006 Dec;56(4):470-4. doi: 10.1016/j.neures.2006.09.005. Epub 2006 Oct 13.
Abstract
The DYT1 gene containing a trinucleotide deletion (DeltaGAG) is linked to early-onset dystonia, a neurological movement disorder of involuntary muscle contractions. To understand DYT1's contribution to dystonia, we produced and analyzed Dyt1 knockdown (KD) mice that expressed a reduced level of torsinA protein encoded by Dyt1. Knockdown mice exhibited deficits in motor control and a decreased trend in dopamine with a significant reduction in 3,4-dihydroxyphenylacetic acid. These alterations are similar to those displayed by previously reported Dyt1 DeltaGAG knockin heterozygous mice, suggesting that the partial loss of torsinA function contributes to the pathology of the disease.
摘要
含有三核苷酸缺失（DeltaGAG）的DYT1基因与早发性肌张力障碍相关，早发性肌张力障碍是一种非自主性肌肉收缩的神经运动障碍。为了了解DYT1对肌张力障碍的作用，我们制备并分析了Dyt1基因敲低（KD）小鼠，这些小鼠中由Dyt1编码的扭转蛋白A的表达水平降低。基因敲低小鼠表现出运动控制缺陷以及多巴胺水平下降趋势，3,4 - 二羟基苯乙酸显著减少。这些改变与先前报道的Dyt1 DeltaGAG基因敲入杂合小鼠所表现的改变相似，表明扭转蛋白A功能的部分丧失促成了该疾病的病理过程。
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本文引用的文献
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Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.肌张力障碍蛋白torsinA基因变异的影响：鉴定216位残基处的多态性作为蛋白质修饰因子。
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