In 1993 researchers identified “superoxide dismutase” as the cause for sporadic amyotrophic lateral sclerosis (ALS). ALS is often referred to as Lou Gehrig’s disease and affects motor neurons that leads to paralysis and death within 1-5 years.

Doctors Guy Rouleau, Edor Kabashi, Paul Valdmanis, all of Research Centre of the Centre hospitalier de l’Université de Montréal (CRCHUM), identified several genetic mutations in the TDP-43 gene by studying ALS patients from France and Quebec. They established TDP-43 as the gene responsible for up to 5% of the ALS patients.

Animal studies will be used to provide additional crucial insight into how TDP-43 generates superoxide dismutase, which kills motor neurons. It is hoped that this is a step toward the development of therapies for people suffering from ALS and other neurodegenerative diseases.