Lee M K, Borchelt D R, Wong P C, Sisodia S S, Price D L
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
Curr Opin Neurobiol. 1996 Oct;6(5):651-60. doi: 10.1016/s0959-4388(96)80099-7.
Identification of genetic mutations linked to familial neurodegenerative diseases have made it possible to generate useful transgenic animal models. Studies using these transgenic animals indicate that many familial neurodegenerative diseases, such as motor neuron disease, Alzheimer's disease, prion diseases and trinucleotide repeat diseases, result from a gain of deleterious properties. The disease-specific pathology in transgenic mice demonstrates the utility of these models in elucidating pathogenic mechanisms of the disease and in developing therapeutic strategies.
与家族性神经退行性疾病相关的基因突变的识别使得生成有用的转基因动物模型成为可能。使用这些转基因动物的研究表明,许多家族性神经退行性疾病,如运动神经元病、阿尔茨海默病、朊病毒病和三核苷酸重复疾病,是由有害特性的增加所致。转基因小鼠中的疾病特异性病理学证明了这些模型在阐明疾病致病机制和制定治疗策略方面的实用性。