Abnormalities in a protein called TDP-43 are present in approximately 97% of all ALS cases. TDP-43 is normally found in the nucleus of a cell (a central compartment where our DNA is located); however, in people living with ALS it is often found in the cytoplasm (the area outside of the nucleus) where it does not belong. This altered location of TDP-43 is thought to be harmful to cells.
Previous work looking at TDP-43 in cell models revealed that another protein called ataxin-2 can actually make TDP-43 more toxic. Building on this work, Lindsay Becker, a PhD student in Dr. Aaron Gitler’s lab, studied the effects of changing the amount of ataxin-2 in mice with ALS. Lindsay found that when the amount of ataxin-2 is decreased, ALS mice live longer with increased muscle function suggesting that reducing ataxin-2 levels may represent a promising new strategy to treat ALS in humans.