Advances in genetics research in the pathogenesis of amyotrophic lateral sclerosis.
10.11817/j.issn.1672-7347.2020.190506
- Author:
Yan WANG
1
;
Hang YI
2
;
Qiao LIAO
3
;
Fangfang BI
4
Author Information
1. Xiangya School of Medicine, Central South University, Changsha 410013. wangy0331@126.com.
2. Xiangya School of Medicine, Central South University, Changsha 410013.
3. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
4. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. fangfangbi@csu.edu.cn.
- Publication Type:Journal Article
- Keywords:
amyotrophic lateral sclerosis;
excitotoxicity;
gene mutation;
imbalance of protein homeostasis;
mitochondrial dysfunction;
prion-like proliferation and propagation;
transport disorders
- MeSH:
Amyotrophic Lateral Sclerosis/genetics*;
Humans;
Motor Neurons;
Mutation;
Neurodegenerative Diseases;
Proteins
- From:
Journal of Central South University(Medical Sciences)
2020;45(12):1483-1489
- CountryChina
- Language:English
-
Abstract:
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease affecting the upper and lower motor neurons. It is characterized by progressive muscle weakness, atrophy and ultimate death due to dysphagia and dyspnea. There are many causes of ALS, among which the genetic factors show great relevance. Imbalance of protein homeostasis in neurons, prion-like proliferation and propagation of abnormal proteins, mitochondrial dysfunction, glutamate mediated excitotoxicity, and intraneuronal substance transport disorders are recognized as the pathogenesis.The study on gene mutation related to pathogenesis will bridge the molecular and cellular research of ALS, which can deepen the understanding of the occurrence and development of ALS and the role of gene mutation in ALS, and provide new ideas and enlightenment for the treatment of ALS.
