"NEK1 gene mutations identified as key drivers of ALS in groundbreaking study"

Mutations in the NEK1 gene, a major genetic cause of ALS, disrupt the structure of nerve fibers and hinder the movement of molecules inside nerve cells, according to a study by Northwestern University. The research identified two pathways affected by NEK1 mutations: disruptions in microtubule function, which support the structure of motor neurons, and disruptions in nuclear import, the movement of molecules in and out of the nucleus. Treating NEK1-mutant motor neurons with certain cancer drugs improved nuclear import, suggesting a connection between the two processes. The findings provide potential therapeutic targets for ALS treatment.