Long-term In Vivo Monitoring of Neuromuscular Performance in Mice

项目总结/摘要 我们研究神经肌肉疾病遗传基础的能力已经进入了一个新时代， 测序允许更快速地鉴定潜在的突变。在患者中发现的突变可以 迅速转移到模型生物体，如小鼠，用于详细的机制研究，这在患者中是不可能的。 可用的神经肌肉疾病小鼠模型的数量不断增加， 可用的分子遗传学工具。相比之下，相对缺乏复杂的工具， 神经肌肉疾病小鼠的表型表征。在临床上，肌电图（EMG）和 神经动作电位（NAP）数据常规地从患者收集用于诊断和研究。这些 神经肌肉性能的测量是特别有用的，因为它们可以重复并用于 随时间推移监测治疗进展或反应。我们建议在小鼠中开发类似的能力， 改进现有的可植入技术，允许在不受束缚的情况下纵向记录EMG和NAP， 自由移动的老鼠

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.