肌萎缩侧索硬化基因研究进展

Genetic Advances of Amyotrophic Lateral Sclerosis

肌萎缩侧索硬化(ALS)是一种成年起病的致死性慢性神经变性疾病,与其他神经变性病类似,缺乏有效的治疗方法。随着外显子组及全基因组测序技术的飞速发展,ALS相关的突变基因研究为探索该病神经元变性的发病机制、构建动物模型以及靶向基因治疗提供了依据。因此了解ALS相关基因突变的最新进展非常重要,本文就最近五年该领域的新发现以及ALS可能的致病机理做一综述。

Amyotrophic lateral sclerosis（ ALS） is a late-onset devastating neurodegenerative disease,like other neurodegenerative diseases,remains incurable. With the rapid development of exons and whole genome sequencing techniques,gene mutations linked to ALS are providing clues for exploring the pathogenesis,constructing animal model and how to target therapies. It is important for researchers to keep abreast of the rapid influx of new data in ALS,and we aim to summarize the major genetic advances made in the field over the past 5 years.