Bioinformatics Lab, Department of Biotechnology, School of Bio Sciences and Technology, Vellore Institute of Technology (deemed to be university), Vellore, Tamil Nadu, 632014, India.
J Mol Neurosci. 2020 Nov;70(11):1742-1770. doi: 10.1007/s12031-020-01569-w. Epub 2020 May 15.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and is characterized by degeneration and axon loss from the upper motor neuron, that descends from the lower motor neuron in the brain. Over the period, assorted outcomes from medical findings, molecular pathogenesis, and structural and biophysical studies have abetted in providing thoughtful insights underlying the importance of disease-causing genes in ALS. Consequently, numerous mechanisms were proposed for the pathogenesis of ALS, considering protein mutations, aggregation, and misfolding. Besides, the answers to the majority of ALS cases that happen to be sporadic still remain obscure. The application in discovering susceptibility factors in ALS contemplating the genetic factors is to be further dissevered in the future years with innovation in research studies. Hence, this review targets in revisiting the breakthroughs on the disease-causing genes related with ALS.
肌萎缩侧索硬化症（ALS）是一种神经退行性疾病，其特征是大脑中的运动神经元自上而下的运动神经元退化和轴突丢失。在此期间，各种医学发现、分子发病机制、结构和生物物理研究的结果都为疾病相关基因在 ALS 中的重要性提供了有见地的见解。因此，许多机制被提出用于 ALS 的发病机制，考虑到蛋白质突变、聚集和错误折叠。此外，大多数偶然发生的 ALS 病例的答案仍然不清楚。未来几年，随着研究的创新，在探索 ALS 易感性因素方面，考虑遗传因素的应用将进一步分离。因此，本综述旨在回顾与 ALS 相关的致病基因的突破。
