Nicholson S J, Witherden A S, Hafezparast M, Martin J E, Fisher E M
Department of Neurogenetics, Imperial College, London, UK.
Mamm Genome. 2000 Dec;11(12):1041-52. doi: 10.1007/s003350010205.
Motor neurons are among some of the most unusual cells in the body becaue of their immense size and their role as the critical link between the motor centers of the brain and the muscles. In addition to their intrinsic biological interest, it is vital that we gain a better understanding of these cells and their pathology, since motor neuron degenerative diseases are lethal disorders that affect young and old and are relatively common. For example, one form of spinal muscular atrophy (SMA) is the most common genetic killer of children in the developed world. Amyotrophic lateral sclerosis (ALS), another form of motor neuron degeneration, is the third most common neurodegenerative cause of adult death, after Alzheimer's disease and Parkinson's disease, and is significantly more common than multiple sclerosis (Motor Neurone Disease Association 1998). Currently, approximately 1 in 500 people in England and Wales who die have a form of motor neuron disease (Motor Neurone Disease Association 1998). Each year, 5000 Americans are diagnosed with ALS, and of these, 10% are under 40 years old. Mouse models of motor neuron degeneration are essential for understanding the causes and mechanisms of motor neuron pathology. These mice are yielding important information that will ultimately lead to treatments and potentially cures for these diseases.
运动神经元是人体中一些最为特殊的细胞，这是由于它们体积巨大，且在大脑运动中枢与肌肉之间起着关键的连接作用。除了其内在的生物学研究价值外，我们深入了解这些细胞及其病理学特征至关重要，因为运动神经元退行性疾病是致命性疾病，影响各个年龄段的人群，且相对常见。例如，一种形式的脊髓性肌萎缩症（SMA）是发达国家儿童中最常见的遗传性致死疾病。肌萎缩侧索硬化症（ALS），作为另一种运动神经元退行性疾病，是继阿尔茨海默病和帕金森病之后成人死亡的第三大常见神经退行性病因，且比多发性硬化症更为常见（运动神经元疾病协会，1998年）。目前，在英格兰和威尔士，约每500名死亡者中就有1人患有某种形式的运动神经元疾病（运动神经元疾病协会，1998年）。每年，有5000名美国人被诊断出患有ALS，其中10%年龄在40岁以下。运动神经元退行性疾病的小鼠模型对于理解运动神经元病理学的病因和机制至关重要。这些小鼠正在提供重要信息，最终将促成针对这些疾病的治疗方法并有可能实现治愈。
