McBride Sean M, Holloway Sandra L, Jongens Thomas A
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Drug Discov Today Technol. 2012 Sep 24;10(1):e129-e136. doi: 10.1016/j.ddtec.2012.09.005.
Despite obvious differences such as the ability to fly, the fruit fly is similar to humans at many different levels of complexity. Studies of development, cell growth and division, metabolism, and even cognition, have borne out these similarities. For example, bearing mutations in the fly gene homologue of the known human disease Fragile X, are affected in fundamentally similar ways as affected humans. The ramification of this degree of similarity is that , as a model organism, is a rich resource for learning about human cells, development and even human cognition and behavior. has a short generation time of ten days, is cheap to propagate and maintain and has a vast array of genetic tools available to it; making an extremely attractive organism for the study of human disease. Here, we summarize research from our lab and others using to understand the human neurological disease, called Fragile X. We focus on the model of fragile X, its characterization, and use as a tool to identify potential drugs for the treatment of Fragile X. Several clinical trials are in progress now that were motivated by this research.
尽管果蝇具有飞行能力等明显差异，但在许多不同复杂程度的层面上，它与人类相似。对发育、细胞生长与分裂、新陈代谢乃至认知的研究都证实了这些相似之处。例如，果蝇中已知人类疾病脆性X综合征基因同源物发生突变时，其受影响的方式与患病人类基本相似。这种相似程度的影响在于，作为一种模式生物，果蝇是了解人类细胞、发育乃至人类认知与行为的丰富资源。果蝇的世代周期短，仅十天，繁殖和饲养成本低廉，且有大量可用的遗传工具；这使得果蝇成为研究人类疾病极具吸引力的生物体。在此，我们总结了我们实验室及其他团队利用果蝇来理解名为脆性X综合征的人类神经疾病的研究。我们聚焦于脆性X综合征的果蝇模型、其特征以及作为识别治疗脆性X综合征潜在药物工具的用途。受此研究推动，目前有几项临床试验正在进行。
