MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Bioessays. 2011 Dec;33(12):956-65. doi: 10.1002/bies.201100082. Epub 2011 Oct 18.
Invertebrate genetic models with their tractable neuromuscular systems are effective vehicles for the study of human nerve and muscle disorders. This is exemplified by insights made into spinal muscular atrophy (SMA) using the fruit fly Drosophila melanogaster and the nematode worm Caenorhabditis elegans. For speed and economy, these invertebrates offer convenient, whole-organism platforms for genetic screening as well as RNA interference (RNAi) and chemical library screens, permitting the rapid testing of hypotheses related to disease mechanisms and the exploration of new therapeutic routes and drug candidates. Here, we discuss recent developments encompassing synaptic physiology, RNA processing, and screening of compound and genome-scale RNAi libraries, showcasing the importance of invertebrate SMA models.
具有可处理的神经肌肉系统的无脊椎动物遗传模型是研究人类神经和肌肉疾病的有效工具。使用果蝇 Drosophila melanogaster 和秀丽隐杆线虫 Caenorhabditis elegans 研究脊髓性肌萎缩症 (SMA) 就是一个很好的例子。为了快速和经济，这些无脊椎动物为遗传筛选以及 RNA 干扰 (RNAi) 和化学文库筛选提供了方便的、全生物体的平台，允许快速测试与疾病机制相关的假设，并探索新的治疗途径和候选药物。在这里，我们讨论了最近在突触生理学、RNA 处理以及化合物和全基因组 RNAi 文库筛选方面的进展，展示了无脊椎动物 SMA 模型的重要性。
