Amyotrophic Lateral Sclerosis Risk Genes and Suppressor

被引:5
作者
Kumar, Rupesh [1 ]
Malik, Zubbair [3 ]
Singh, Manisha [1 ]
Rachana, R. [1 ]
Mani, Shalini [1 ]
Ponnusamy, Kalaiarasan [2 ]
Haider, Shazia [1 ]
机构
[1] Jaypee Inst Informat Technol, Dept Biotechnol, Sec-62, Noida, Uttar Pradesh, India
[2] Jawaharlal Nehru Univ, Sch Biotechnol, New Delhi 110067, India
[3] Jawaharlal Nehru Univ, Sch Computat & Integrat Sci, New Delhi 110067, India
关键词
ALS; SOD1; C9ORF72; TDP-43; FUS; putative targets; mutations; suppressor; MOTOR-NEURON DEGENERATION; STRESS GRANULE DYNAMICS; TRANSGENIC MOUSE MODEL; SUPEROXIDE-DISMUTASE; REPEAT EXPANSION; MUTANT SOD1; FRONTOTEMPORAL DEMENTIA; HEXANUCLEOTIDE REPEAT; ANALYSES IDENTIFY; CALCIUM-CHANNELS;
D O I
10.2174/1566523223666221108113330
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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.
引用
收藏
页码:148 / 162
页数:15
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