A new study by researchers at the University of Sydney has uncovered an abnormal protein that could be a common link between the different forms of motor neuron disease (MND).  

The superoxide dismutase 1 (SOD1) protein typically offers protection to different cells throughout the body. However, a mutation is believed to turn the protein toxic, which can cause cell death in the nerves of the spine.  

The protein was previously believed to have been tied to a rare genetic form of ALS that only occurs in 10% of people diagnosed. To test if SOD1 could be found with other forms of MND, researchers examined samples from people with ALS, rather than using animal and cellular models like past studies.  

According to senior author Kay Double, a professor at the University of Sydney Brain and Mind Center, “the results [of the study] suggest this abnormal protein contributes to cell death in many forms of motor neuron disease, not just rare genetic cases of motor neuron disease.”  

The study could potentially open new avenues for research by revealing a shared protein capable of being targeted by future treatments for motor neuron disease. This includes ALS with FTD, which is caused by the shared risk gene of the two diseases.  

ALS and FTD share considerable overlap past this shared risk gene. For more information on ALS with FTD, including previous breakthroughs in research, read the spring 2018 issue of AFTD’s Partners in FTD Care.