Advance in research on pathogenetic genes for amyotrophic lateral sclerosis.
10.3760/cma.j.cn511374-20200903-00649
- VernacularTitle:肌萎缩侧索硬化症致病基因的研究进展
- Author:
Huihui ZHAO
1
;
Qi NIU
Author Information
1. Department of Geriatrics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China. md_new@sina.com.
- Publication Type:Journal Article
- MeSH:
Amyotrophic Lateral Sclerosis/genetics*;
Genetic Testing;
Genotype;
Humans;
Neurodegenerative Diseases/genetics*;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(3):343-349
- CountryChina
- Language:Chinese
-
Abstract:
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.
