Long-term In Vivo Monitoring of Neuromuscular Performance in Mice

项目摘要/摘要 我们研究神经肌肉疾病的遗传基础的能力进入了一个新时代，因为 测序可以更快地识别潜在的突变。在患者中发现的突变可能是 迅速转移到模型生物体，如小鼠，进行详细的机制研究，这是不可能在患者身上进行的。 可用的神经肌肉疾病小鼠模型的数量在不断增加，就像剧目一样。 现有的分子遗传学工具。相比之下，相对缺乏用于体内研究的复杂工具 神经肌肉疾病小鼠的表型特征。在临床上，肌电(EMG)和 神经动作电位(NAP)数据通常从患者那里收集，用于诊断和研究。这些 神经肌肉功能的测量特别有用，因为它们可以重复使用 随着时间的推移，监测治疗的进展或反应。我们建议通过以下方式在小鼠身上开发类似的能力 改进现有的可植入技术，该技术将允许不受限制地纵向记录EMG和NAP， 自由活动的老鼠。

PROJECT SUMMARY/ABSTRACT Our ability to investigate the genetic basis of neuromuscular disease has entered a new era as advances in sequencing allow more rapid identification of underlying mutations. Mutations identified in patients can be moved quickly to model organisms, such as mice, for the detailed mechanistic studies not possible in patients. The number of available mouse models of neuromuscular disease is increasing constantly, as is the repertoire of available molecular genetics tools. By comparison, there is a relative lack of sophisticated tools for in vivo phenotypic characterization in mice with neuromuscular disease. In the clinic, electromyography (EMG) and nerve action potentials (NAP) data are routinely collected from patients for diagnosis and research. These measures of neuromuscular performance are particularly useful because they can be repeated and used to monitor progression or response to treatment over time. We propose to develop similar capabilities in mice by refining existing implantable technology that will allow longitudinal recording of EMG and NAP in untethered, freely moving mice.