Hunsaker Michael R, Arque Gloria, Berman Robert F, Willemsen Rob, Hukema Renate K
Department of Neurological Surgery, University of California, Davis, CA, USA.
Results Probl Cell Differ. 2012;54:255-69. doi: 10.1007/978-3-642-21649-7_14.
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.
为了理解许多遗传性疾病（如脆性X综合征和脆性X相关震颤/共济失调综合征（FXTAS））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至关重要。选择最适合模拟特定疾病的动物模型取决于一系列因素，包括解剖学、生理学和病理学上的相似性；感兴趣基因直系同源物的存在；以及基本细胞生物学和代谢过程的保守性。在本章中，我们将讨论两种为研究FXTAS发病机制和潜在治疗干预效果而构建的脆性X前突变小鼠模型。我们还将讨论小鼠模型的行为、分子、神经病理学和内分泌特征及其与人类FXTAS的关系。
