Bruijn Lucie I, Cudkowicz Merit
The ALS Association, Palm Harbor, FL 34685, USA.
Expert Rev Neurother. 2006 Mar;6(3):417-28. doi: 10.1586/14737175.6.3.417.
Although amyotrophic lateral sclerosis (ALS) was described more than 130 years ago, the cause(s) of most cases of this adult motor neuron disease remains a mystery. With the discovery of mutations in one gene (Cu/Zn superoxide dismutase) as a primary cause of some forms of ALS, model systems have been developed that have helped us begin to understand mechanisms involved in motor neuron death and enabled testing of potential new therapies. Several other genes have been implicated as risk factors in motor neuron diseases, including neurofilaments, cytoplasmic dynein and dynactin, vascular endothelial growth factor, and angiogenin. With advances in the basic research of the disease, many hypotheses accounting for motor neuron death are being explored, including loss of trophic support, protein mishandling, mitochondrial dysfunction, excitotoxicity, axonal abnormalities and inflammation. Many of these mechanisms are the focus of research in other neurodegenerative disorders, such as Parkinson's, Alzheimer's and Huntington's disease.
尽管肌萎缩侧索硬化症(ALS)在130多年前就已被描述,但这种成人运动神经元疾病大多数病例的病因仍是个谜。随着一个基因(铜/锌超氧化物歧化酶)的突变被发现是某些形式ALS的主要病因,已开发出模型系统,这有助于我们开始理解运动神经元死亡所涉及的机制,并能够对潜在的新疗法进行测试。其他几个基因也被认为是运动神经元疾病的风险因素,包括神经丝、胞质动力蛋白和动力蛋白激活蛋白、血管内皮生长因子和血管生成素。随着该疾病基础研究的进展,许多解释运动神经元死亡的假说正在被探索,包括营养支持丧失、蛋白质处理不当、线粒体功能障碍、兴奋性毒性、轴突异常和炎症。这些机制中的许多都是其他神经退行性疾病(如帕金森病、阿尔茨海默病和亨廷顿病)研究的重点。