Amyotrophic lateral sclerosis patients develop higher levels of TAR DNA-binding protein 43


  • Amyotrophic lateral sclerosis (ALS) patients with and without repeat expansions in the ATXN2 or C9ORF72 genes, have different levels of phosphorylated and non-phosphorylated TAR DNA-binding protein 43 (TDA-43) compared to healthy controls providing insights into the pathogenesis of disease.

Why this matters

  • It is known that TDP-43 plays a role in the pathogenesis of ALS and altered TDP-43 levels have been seen in animal models of ALS and data are now needed to corroborate this in humans.

  • The results from this study could inform development of therapeutic strategies tailored to ALS patients with repeat expansion.