Amyotrophic lateral sclerosis, also known as Gregg’s disease, is a progressive neurodegenerative disease characterized by the selective degeneration of upper and lower motor neurons (a type of neuron that controls muscle contraction) and Apoptosis, leading to paralysis and eventually death. ALS is divided into familial type and scattered type, familial ALS (fALS) accounts for about 10%, and sporadic ALS (sALS) accounts for about 90%. Various genetic mutations that cause ALS have been found, accounting for only about 20% to 30% of these cases. However, the etiology of most familial and sporadic cases is still unknown, and is related to excitotoxicity of glutamate in nerve synapses, oxidative stress, neurotrophic factors, autoimmune reactions, heavy metal poisoning, lentiviral infection, etc. .
ALS currently lacks effective treatment methods. The discovery of genes that cause new diseases and susceptibility genes, as well as the search for common mechanisms and therapeutic targets of ALS caused by genes that cause multiple diseases, are current research hotspots.