Genetics of ALS
Between 5 percent and 10 percent of ALS cases are inherited through families via gene mutations. (The other 90 percent of cases are sporadic). Researchers have identified about 60 percent of the genes linked to ALS. The rest are still under investigation.
In the summer of 2016, the ALS Association announced an Ice Bucket Challenge success story on the genetic research front. More than 80 researchers working in 11 countries discovered a new gene variant called NEK1, which is associated with 3 percent of ALS cases. The ALS Association is now funding research into mouse models to help determine this gene’s role in ALS, and to develop new therapeutic targets for people who carry it.
The second most common ALS gene mutation, SOD1, has led to the development of an investigational drug called arimoclomol. Researchers at the University of Miami are studying whether this drug could help reduce the buildup of damaging protein on motor neurons.
March 16, 2020
Christopher Nystuen, MD, MBA