Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome
Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome
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DOI：
10.1007/978-3-642-21649-7_14
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发表时间：
2012-01-01
期刊：
影响因子：
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通讯作者：
Hukema, Renate K.
中科院分区：
文献类型：
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作者：
Hunsaker, Michael R.;Arque, Gloria;Hukema, Renate K.
为了了解脆性X综合征和脆性X相关震颤/共济失调综合征(FXTAS)等多种遗传性疾病的发病机制，使用神经发育和神经退行性疾病的突变小鼠模型是必不可少的。选择哪种动物模型最适合于模拟特定的疾病取决于一系列因素，包括解剖学、生理学和病理学的相似性；感兴趣基因的同源基因的存在；以及基本细胞生物学和代谢过程的保守。在本章中，我们将讨论两种脆性X预突变的小鼠模型，以研究FXTAS的发病机制和潜在的治疗干预措施的效果。讨论了小鼠模型的行为、分子、神经病理和内分泌特征及其与人类FXTAS的关系。
The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.