Department of Neurodegenerative Disease, UCL Institute of Neurology, London WC1N3BG, UK.
Dis Model Mech. 2009 Sep-Oct;2(9-10):446-53. doi: 10.1242/dmm.001644.
Sporadic diseases, which occur as single, scattered cases, are among the commonest causes of human morbidity and death. They result in a variety of diseases, including many cancers, premature aging, neurodegeneration and skeletal defects. They are often pathogenetically complex, involving a mosaic distribution of affected cells, and are difficult to model in the mouse. Faithful models of sporadic diseases require innovative forms of genetic manipulation to accurately recreate their initiation and pathogenesis. Such modelling is crucial to understanding these diseases and, by extension, to the development of therapeutic approaches to treat them. This article focuses on sporadic diseases with a genetic aetiology, the challenges they pose to biomedical researchers, and the different current and developing approaches used to model such disorders in the mouse.
散发性疾病是人类发病和死亡的最常见原因之一，它们以单个、分散的病例形式出现。这些疾病会导致多种疾病，包括许多癌症、早衰、神经退行性疾病和骨骼缺陷。它们通常具有复杂的发病机制，涉及受影响细胞的镶嵌分布，并且在小鼠中难以建模。散发性疾病的忠实模型需要创新的遗传操作形式，以准确重现其起始和发病机制。这种建模对于理解这些疾病至关重要，并且可以扩展到开发治疗这些疾病的治疗方法。本文重点介绍具有遗传病因的散发性疾病，它们对生物医学研究人员构成的挑战，以及目前用于在小鼠中模拟此类疾病的不同方法和正在开发的方法。
