论文部分内容阅读
肌萎缩侧索硬化(ALS)是运动神经元病的最常见临床类型，是一种选择性累及运动神经元和进行性恶化的神经系统变性疾病，生存期较短，从症状出现到死亡一般不超过5年。文中回顾ALS发病以及预后相关的基因，评估从全基因组关联研究中收集到的信息。并详细介绍近年ALS基因研究中新的热点基因--锌指蛋白512B(ZNF512B)，包括其发现历程及与临床预后的相关性，并探讨该基因如何影响ALS发病及进展。“,”Amyotrophic lateral sclerosis (ALS) is one of the most common clinical type of motor neuron disease (MND), a kind of selective involving motor neurons and progressive deterioration of the nervous system degenerative disease, a kind of fatal disease. And the lifetime of the patients is short, whose duration is generally no more than five years from symptom onset to death. The genes related to ALS pathogenesis and prognosis were reviewed, and the collected information from genome-wide association studies was evaluated. The research progress ofZNF512B gene, a new ALS gene, was introduced in detail, including its discovery process and the clinical prognosis. And its influence on the onset of ALS and progress was discussed.