肌萎缩侧索硬化
基因
疾病
表型
遗传学
遗传(遗传算法)
生物
基因型
基因检测
发病机制
生物信息学
医学
免疫学
病理
出处
期刊:PubMed
日期:2022-03-10
卷期号:39 (3): 343-349
被引量:1
标识
DOI:10.3760/cma.j.cn511374-20200903-00649
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which is associated with genetic and environmental factors, though the pathogenesis is still unclear and there is also a lack of effective treatment. With the rapid advance of genetic testing techniques, over 30 genes have been associated with the disease. Some ALS patients harboring genetic variants may present unique clinical characteristics and particular mode of inheritance, but the correlation between genotype and phenotype is still not very clear. Studies have shown that research on the pathogenic genes of ALS is important for the diagnosis and selection of potential drug targets. Here the pathogenic genes of ALS, in particular the newly discovered genes, and their underlying mechanisms are reviewed. The necessity of genetic testing for ALS patients is also stressed.
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