The development and interfacing of neuropsychological testing in mice and humans to advance gene investigations into WBS

小鼠和人类神经心理学测试的开发和连接，以推进 WBS 基因研究

• 批准号: G0800554/1
• 负责人: May Tassabehji
• 金额: $ 93.63万
• 依托单位: University of Manchester
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2009
• 资助国家: 英国
• 起止时间: 2009 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0800554%2F1
• 关键词: development; interfacing; neuropsychological; testing; mice

Genetic approaches currently available in the mouse make this organism powerful for functional analysis of important genes and for defining molecular pathways underlying the pathogenesis of human disease. By ?engineering? mice to carry the same genetic defects as human patients we can study the resulting neurological and behavioural impairments in ways not possible in humans. But some subtle effects may be missed because current mouse tests may not assess the correct behavioural domains. Indeed human/mouse comparisons are often impossible because the tasks used are completely different. The pathological role of key genes are then missed and may be excluded from investigations into brain development. Individuals with Williams syndrome display problems in motor actions, anxiety, social behaviour, learning and memory, but the separate contributions from the different genes known to be involved are unknown. By developing tasks as similar as possible to those impaired in the patients and testing mice carrying mutations in specific Williams syndrome genes, we can investigate the separate contributions from each gene. The resulting comparisons will help us understand exactly what is going wrong in the patients, and may give clues to eventual remediation methods.

目前在小鼠身上可用的遗传方法使这种生物在重要基因的功能分析和确定人类疾病发病机制的分子途径方面具有强大的功能。工程？工程学？小鼠携带与人类患者相同的基因缺陷，我们可以研究由此导致的神经和行为损伤，这在人类是不可能的。但一些微妙的影响可能会被忽略，因为目前的小鼠测试可能无法评估正确的行为领域。事实上，人和老鼠的比较往往是不可能的，因为使用的任务完全不同。因此，关键基因的病理作用就会被忽略，并可能被排除在大脑发育研究之外。威廉姆斯综合症患者表现出运动动作、焦虑、社交行为、学习和记忆方面的问题，但已知涉及的不同基因的单独贡献尚不清楚。通过开发尽可能类似于患者受损的任务，并测试携带特定威廉姆斯综合征基因突变的小鼠，我们可以调查每个基因的单独贡献。由此产生的比较将帮助我们准确地了解患者的问题所在，并可能为最终的补救方法提供线索。