自发性和遗传修饰突变体的小脑萎缩的运动表现。
Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy.
机构信息
Department of Psychology, University of Rouen, 76821, Mont-Saint-Aignan Cedex, France.
Laboratory of Stress, Immunity, and Pathogens EA7300, and CHRU of Nancy, University of Lorraine, 54500, Vandoeuvre-les-Nancy, France.
出版信息
Cerebellum. 2019 Jun;18(3):615-634. doi: 10.1007/s12311-019-01017-5.
Chance discovery of spontaneous mutants with atrophy of the cerebellar cortex has unearthed genes involved in optimizing motor coordination. Rotorod, stationary beam, and suspended wire tests are useful in delineating behavioral phenotypes of spontaneous mutants with cerebellar atrophy such as Grid2, Grid2, Rora, Agtpbp1, Reln, and Dab1. Likewise, transgenic or null mutants serving as experimental models of spinocerebellar ataxia (SCA) are phenotyped with the same tests. Among experimental models of autosomal dominant SCA, rotorod deficits were reported in SCA1 to 3, SCA5 to 8, SCA14, SCA17, and SCA27 and stationary beam deficits in SCA1 to 3, SCA5, SCA6, SCA13, SCA17, and SCA27. Beam tests are sensitive to experimental therapies of various kinds including molecules affecting glutamate signaling, mesenchymal stem cells, anti-oligomer antibodies, lentiviral vectors carrying genes, interfering RNAs, or neurotrophic factors, and interbreeding with other mutants.
偶然发现小脑皮质萎缩的自发突变体，揭示了参与优化运动协调的基因。转棒、固定梁和悬线试验可用于描绘具有小脑萎缩的自发突变体的行为表型，如 Grid2、Grid2、Rora、Agtpbp1、Reln 和 Dab1。同样，作为脊髓小脑共济失调 (SCA) 的实验模型的转基因或缺失突变体也用相同的试验进行表型分析。在常染色体显性 SCA 的实验模型中，报道了 SCA1 至 3、SCA5 至 8、SCA14、SCA17 和 SCA27 的转棒缺陷以及 SCA1 至 3、SCA5、SCA6、SCA13、SCA17 和 SCA27 的固定梁缺陷。梁试验对各种实验治疗方法敏感，包括影响谷氨酸信号的分子、间充质干细胞、抗寡聚体抗体、携带基因的慢病毒载体、干扰 RNA 或神经营养因子，以及与其他突变体杂交。
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