Leaders at the annual meeting of the American Academy of Neurology recently announced some important progress that has been made with regard to understanding and treating amyotrophic lateral sclerosis (ALS).
The meeting was hosted in Vancouver, Canada, last month. One of the most notable studies was conducted by Johns Hopkins University in Baltimore, Maryland. The study followed an unusual protein that C9orf72 releases after mutation. Scientists believe this biomarker may be useful as a responsive target for potential therapies that are designed to treat the mutation.
The mutation results in dipeptide repeat proteins (DPRs). These tiny proteins include two repeated amino acids: proline and glycine. Because the proteins were responsive to a greater dose of an antisense treatment for the mutation, researchers want to use DPRs as a new clinical trial target. Treating the DPRs may treat ALS.
Researchers conducted this study in cell cultures, but they still need to validate the same positive results in other models. Only after these models are successful will they be allowed to advance to clinical trials.
Another study from the University of Antwerp suggests that C9orf72 has an “anticipation” phenomenon. As such, the mutation starts earlier in each rising generation, typically because the mutation has repeated and expanded throughout time.
This study involved 29 multigenerational families who have the mutation. Results showed that the youngest person in the generation experienced ALS seven years earlier than two generations before.
