Mechanism Discovered for How ALS Mutations Damage Nerve Functions

A study led by St. Jude Children’s Research Hospital found that mutations in a gene responsible for amyotrophic lateral sclerosis (ALS), disrupt the RNA transport system in nerve cells. The gene, TDP-43, is known to cause ALS when mutated. However, the study showed for the first time that the mutations disrupt efficient movement within nerve cells of RNA molecules, which direct protein assembly based on instructions carried in DNA. Without RNA molecules, nerves cannot make proteins necessary to function normally. Motor neurons control movement — including breathing — and their death and deterioration are traits of ALS. The results of this study provide insight into how problems in RNA metabolism, including its regulation and functioning, can lead to ALS or other neurodegenerative diseases. To read more about this study, click here.