肌萎缩侧索硬化症相关基因突变与疾病动物模型

摘要

Amyotrophic lateral sclerosis ( ALS ) is a progressive neurodegenerative disease characterized by a selective loss of upper and lower motor neurons that lead to paralysis and even death. Mutations in a large number of genes, including FUS/TLS, EPHA4, SS18 L1, ATXN2 and C9ORF72, are identified to the casual genes of ALS, which broadens our understanding of the role of RNA modulation in ALS pathogenesis. This review summarized ALS-associated genes and the related ALS rodent models.%肌萎缩侧索硬化症是一种累进性神经退行疾病,以上、下运动神经元选择性退化和凋亡为特征,引发瘫痪、最终导致死亡.大量引发ALS的基因突变被鉴定出,包括FUS/TLS、EPHA4、SS18 L1、ATXN2和C9ORF72等基因,这些基因突变的发现拓宽了RNA调节参与ALS病理生成的理解.本文对家族性ALS相关的基因突变及现有的ALS啮齿类动物模型进行总结概括.