肌萎缩侧索硬化
SOD1
C9orf72
基因
生物
兴奋毒性
表型
TARDBP公司
遗传学
疾病
失调家庭
生物信息学
医学
三核苷酸重复扩增
病理
程序性细胞死亡
精神科
等位基因
细胞凋亡
作者
Kalaiarasan Ponnusamy,Shazia Haider,Rupesh Kumar,Md. Zubbair Malik,Manisha Singh,R. Rachana,Shalini Mani
标识
DOI:10.2174/1566523223666221108113330
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to death by progressive paralysis and respiratory failure within 2-4 years of onset. About 90-95% of ALS cases are sporadic (sALS), and 5-10% are inherited through family (fALS). Though the mechanisms of the disease are still poorly understood, so far, approximately 40 genes have been reported as ALS causative genes. The mutations in some crucial genes, like SOD1, C9ORF72, FUS, and TDP-43, are majorly associated with ALS, resulting in ROS-associated oxidative stress, excitotoxicity, protein aggregation, altered RNA processing, axonal and vesicular trafficking dysregulation, and mitochondrial dysfunction. Recent studies show that dysfunctional cellular pathways get restored as a result of the repair of a single pathway in ALS. In this review article, our aim is to identify putative targets for therapeutic development and the importance of a single suppressor to reduce multiple symptoms by focusing on important mutations and the phenotypic suppressors of dysfunctional cellular pathways in crucial genes as reported by other studies.
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