Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the deterioration of motor neurons. ALS affects about 1 in 20,000 people and leads to death within 2 to 5 years after diagnosis. There is currently no cure for ALS, but there are many genes known to be associated with ALS, such as SOD 1 and C9orf72. Recently, mutations in Matrin 3 were linked to ALS. While 15 mutations in Matrin 3 have been discovered, this study focuses on the four initial mutations, which are the Ser85Cys, Phe115Cys, Pro154Ser, and Thr622Ala mutations.
Download count: 0